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CMTA
WINTER 2021
THE
Re p o r t
www.cmtausa.org
MEET CRYSTAL EMERY—
WRITER/PRODUCER/FILMMAKER
7 > Two Studies on
Inhibiters Funded
20 > It Starts
With the Toes…
31 > Like Father,
Like Son
CMTA LEADERSHIP
Amy J. Gray, CEO
BOARD OF DIRECTORS ADVISORY BOARD
CMTA STAR ALLIANCE
Gilles Bouchard, Chairman Teresa Carroll, MS, PhD
PA RT N E R S : Gary Gasper, Treasurer Gregory Carter, MD, MS
Herb Beron, Secretary Ken Cornell, CO
Dan Chamby Bob DeRosa
ACCELERON PHARMA David Coldiron Katy Eichinger, PT, DPT, NCS
Thomas W. Dubensky, Jr., PhD Ashraf Elsayegh, MD, FCCP
ARQ GENETICS Laura Fava Tim Estilow, OTR/L
Alan Korowitz Shawna Feely, MS, CGC
CHARLES RIVER David Norcom Valery Hanks, OTR/L, C/NDT
Steve O’Donnell Sarah Kesty
GENZYME, A SANOFI COMPANY Chris Ouellette Kate Lair
Elizabeth Ouellette Bethany Noelle Meloche
HUMANFIRST THERAPEUTICS LLC Kevin Sami Tom Meloche
Phyllis Sanders, Esq. David Misener, BSc (HK), CPO, MBA
HORIZON DISCOVERY Steven Scherer, MD, PhD
Michael Shy, MD
Elizabeth Misener, PhD, LMSW
Christine Murray, MD
IONIS PHARMACEUTICALS John Svaren, PhD James Nussbaum, PT, PhD, SCS, EMT
Special Advisor to the Board Sabrina Paganoni, MD, PhD
Glenn Pfeffer, MD
INFLECTIS BIOSCIENCE Bruce Chizen
Kenneth Raymond
Clark Semmes
THE JACKSON LABORATORY STAR ADVISORY BOARD Carly Siskind, MS, CGC
John Svaren, PhD, Chair, Scientific Expert Board Greg Stilwell, DPM
NCATS (NIH) Mark Scheideler, PhD, Chair, Therapy Expert Board David Tannenbaum, LCSW
Michael E. Shy, MD, Co-Chair, Clinical Expert Board Amy Warfield, PT, DPT
NEW YORK STEM CELL FOUNDATION Mary Reilly, MD, Co-Chair, Clinical Expert Board Evan Zeltsar
PASSAGE BIO
PSYCHOGENICS CMTA STAFF
Jonah Berger National Youth Programs Manager, jonah@cmtausa.org
REGENACY PHARMACEUTICALS Kim Magee Director of Finance and Administration, kim@cmtausa.org
Leslie Nagel Marketing Coordinator, leslie@cmtausa.org
RENOVO NEURAL, INC. Laurel Richardson Director of Community Outreach, laurel@cmtausa.org
Jeana Sweeney Director of Development, jeana@cmtausa.org
CMTA CORPORATE
PA RT N E R S :
AETREX WORLDWIDE, INC.
ALLARD, USA
BALANCE WALKING
FOOT SOLUTIONS
GENEDX
HANGER CLINIC
KINETIC RESEARCH
TURBOMED ORTHOTICS
Walking Together Apart page 9
CMTARe p or t
THE
INSIDE THIS ISSUE:
RESEARCH
Board Approves Grants for Inhibitor Work .............7 Marcia Semmes Executive Editor
Karlyn Rosen Aires Designer
CMT STORIES Dana Schwertfeger Contributing Editor
Filmmaker Doesn’t Let CMT Stop Her ......................6
The CMTA Report is published by the
Educator Seeks Input..............................................19 Charcot-Marie-Tooth Association, a registered
Widower Makes/Sells Pens for CMTA ....................25 non-profit 501(C)(3) health organization.
© 2021, The CMTA. All rights reserved under
Former Pastor Spreads Word About CMT ..............28 International and Pan American Copyright
conventions. No part of this newsletter may
LIVING WITH CMT be reproduced in any form or by any
COVID-19 Vaccine ....................................................4 electronic or mechanical means, including
information storage and retrieval systems,
New Genetic Tools for Family Planning ................10 without permission in writing from the
Foot Surgery Part 4 ................................................20 publisher. The opinions expressed in the
newsletter are not necessarily those of the
CMTA COMMUNITY Charcot-Marie-Tooth Association. The material
is presented for educational purposes only
New Advisory Board Members .................................8 and is not meant to diagnose or prescribe.
Why I Give: Howard Landis.....................................14 Always consult your professional advisers
New Centers of Excellence .....................................16 as to how medical, legal or financial
information in The CMTA Report pertains to
Patient/Family Conference Zoomed .......................23 you. The CMTA assumes no liability for any
OUR MISSION: To support the development of information in The CMTA Report.
FUN AND FUNDRAISING
new drugs to treat CMT, to improve the quality of life Walks 4 CMT Raised $180,000 .................................9 ISSN #1067-0181 Vol. 36, No. 1
for people with CMT and, ultimately, to find a cure. CMTA YOUTH Email the CMTA at
OUR VISION: A World Without CMT. Youth Council Gears Up Fundraising......................12 info@cmtausa.org
A M E S S A G E F R O M T H E C E O
DEAR FRIENDS,
I’m sure I’m not the only one who was happy to see 2020 end. It’s more
than a little ironic that a number depicting clarity of vision came to
represent a year filled with confusion bordering on chaos. But with your
help, the CMTA not only persevered, it thrived.
The CMTA community thrived because our members share our
passion for our mission—finding a cure for CMT. The pandemic did
nothing to diminish that passion—though it did force us to pivot to
new ways of holding branch meetings, walking 4 CMT and shifting to
research that could be done in a bubble. But, as David Tannenbaum
noted in our special issue on COVID-19, people with CMT have had to deal with strangeness and
adversity all of their lives. According to David, “The uncertainty and fear of the COVID-19 crisis is
not all that different from the uncertainty and fear we face in living with CMT.”
This issue is dedicated to everyone—men, women and children, teachers, doctors and
writers—who is helping the CMTA by spreading the word about CMT. It’s a constant, ongoing
battle to educate the many, many people who still have not heard of the disease. But it’s a vital
step toward finding a cure—identify the problem, make people aware of the problem and ask
people to help fund a cure. Dave Loy got a massive shark tattoo on his arm so that he can talk
to people about CMT when they ask about it. Rick Clemente makes and gives away gorgeous
wooden pens. When people ask about the pens, he says the price is a donation to the CMTA.
Sarah Kesty entered her lesson plan about CMT into a contest, and Jeff Seitzer is publishing his
memoir about CMT. Filmmaker Crystal Emery tells us how she prevails over her CMT despite its
impact on her arms, legs and respiratory system.
We’ll be bringing you more in-depth information on STAR’s progress in an upcoming special
issue, but for now I’d like to highlight a few examples of the tremendous research progress made
in 2020, including:
• $2.5 million invested in research
• 19 joint preclinical treatment studies this year with leading pharma/biotechs developing
treatments for CMT
• 32 total alliance partners from top biotech, pharma and gene therapy labs around the world
• 50 active research projects and studies and eight more projects approved in recent months
• More than 30 of the leading CMT scientists and gene therapy experts from around the globe
working with our STAR Advisory Board
• Research tools for biotech companies to use in testing potential therapies for types CMT1,
CMT2, CMT4 and CMTX
• Investments in the discovery of new genes that cause CMT
We look forward, as always, to a brighter future for everyone with CMT. And we wish each of
you a very Happy New Year.
With warm regards,
AMY GRAY, Chief Executive Officer
WINTER 2021 THE CMTA REPORT 3
COVID-19 Vaccine
and CMT—Q & A
Pfizer/BioNTech vaccine did not new smartphone-based, after-
mention any contraindications for vaccination health checker for
What are the side effects of
genetic therapies or other med- people who receive COVID-19
the COVID vaccine? Will they
The known side effects of cur- ications particularly important to vaccines.
affect my CMT?
rent and likely-to-be authorized the CMT community, but you
COVID-19 vaccines are similar to should consult your clinician
those of the annual flu shot and about whether the vaccine will
How long will it take to work?
include muscle soreness at the have an adverse impact on any You won’t get the full protection
Will I get proof of vaccination?
injection site, fever, tiredness, future course of treatment. from the Pfizer-BioNTech vac-
body aches and headache. It’s Should there be any contraindica- cine until about a week after the
important to note that at this tions in the future, we will update second dose, based on clinical
time we do not know whether or our information accordingly. trial data. The researchers found
not the COVID-19 vaccine will that the vaccine’s protection
have a different or more serious started to emerge about 10 days
set of side effects for CMT after the first dose, but it only
What safety measures are in
patients. You should talk to your The U.S. vaccine safety system reached 52 percent efficacy,
place for the COVID vaccine?
doctor about that possibility. ensures that all vaccines are as according to a report in the New
safe as possible. The Centers for England Journal of Medicine. A
Disease Control has developed a week after the second dose, the
new tool, v-safe, as an additional efficacy rose to 95 percent. You
What impact will the vaccine
layer of safety monitoring to should receive a vaccination card
have on possible future gene
increase our ability to rapidly or printout that tells you what
therapy treatments or
The Food and Drug Admini- detect any safety issues with COVID-19 vaccine you received,
medications?
stration’s authorization of the COVID-19 vaccines. V-safe is a the date you received it and
4 THE CMTA REPORT WINTER 2021
where you received it. You by the virus itself. Health offi-
should receive a paper or elec- cials will investigate each event
FOR MORE INFORMATION about
tronic version of a fact sheet that to see if it’s simply coincidence— the COVID-19 vaccine and CMT,
tells you more about the specific or if it could have been caused
COVID-19 vaccine you are being by the vaccine. While everyone
go to www.cmtausa.org/covid.
offered. Each authorized COVID- should be prepared to hear
19 vaccine has its own fact sheet about these reports, they should immune response in older peo-
that contains information to help not be a cause for worry or ple, it’s possible that one of the
you understand the risks and prompt you to delay getting the new vaccines could emerge as a
benefits of receiving that specific vaccine. Your risk of severe com- better option for this age group.
vaccine. plications from COVID-19 is far It’s just far too soon to know.
higher than your risk of compli-
What if I forget to get the cations from the vaccine. Will these vaccines put a dent
The coronavirus vaccines will be
in the epidemic?
Both the Pfizer-BioNTech and
second dose on time?
Moderna vaccines have two much less effective at preventing
I’ve had COVID-19 already.
doses, with the booster shot It’s safe, and probably even bene- death and illness in 2021 if they
Do I need the vaccine?
coming a few weeks after the ficial, for anyone who has had are introduced into a population
first. Pfizer-BioNTech’s second COVID to get the vaccine at some where the virus is raging—as is
dose comes three weeks after the point, experts said. Although peo- now the case in the U.S. A vac-
first, and Moderna’s comes four ple who have contracted the virus cine that’s 95 percent effective,
weeks later. The second dose do have immunity, it is too soon as Moderna’s and Pfizer’s ver-
provides a potent boost that to know how long it lasts. So for sions appear to be, is a powerful
gives people strong, long-lasting now, it makes sense for them to fire hose. But the size of a fire is
immunity. If for some reason get the shot. The question is still a bigger determinant of how
you fail to get the second shot when. Some members of the CDC much destruction occurs.
precisely three weeks after the advisory committee have sug- According to the authors of a
first, you don’t have to start all gested people who have had paper in the journal Health
over again with another two- COVID in the past 90 days should Affairs, at the current level of
dose regimen. be toward the back of the line. infection in the U.S. (about
200,000 confirmed new infec-
tions per day), a vaccine that is
95 percent effective—distributed
What will happen if serious Will the vaccine work on
All the evidence so far suggests at the expected pace—would still
side effects crop up after the older people?
Once a vaccine starts to reach that the answer is yes. The clini- not be enough to end the terrible
vaccine is rolled out?
large numbers of people, it’s cal trials for the two leading toll of the virus in the six months
possible (and not uncommon) vaccines have shown that they after it was introduced. Almost
for a small number of severe work about the same in older 10 million or so Americans
“adverse events” to occur. Many people as younger people. As the would contract the virus, and
existing vaccines, including the vaccines get distributed, the vac- more than 160,000 would die.
flu shot, also can cause rare cine makers and the CDC will Measures that reduce the virus’s
complications, including Guil- continue to monitor the effec- spread—like mask-wearing,
lain-Barré syndrome, seizures tiveness of the vaccine in people social distancing and rapid-
and sudden unexplained death. 65 and older who, because of result testing—can still have
While this sounds frightening, age-related changes in their profound effects. Public health
the risk is minuscule when con- immune systems, often don’t officials hope that people will
sidered over the millions of respond as well to vaccination as continue to take these precau-
people who are safely vaccinated younger people do. But just as tions at least until the country
each year, and some of these certain flu vaccines have been reaches a vaccination rate of 70
complications can be triggered developed to evoke a stronger to 75 percent. k
DISCLAIMER: Nothing shared on these pages should be construed or is intended to be used for medical diagnosis or treatment. It should not
be used in place of the advice of your physician or other qualified health care provider. Should you have any emergency questions or concerns,
please contact your physician or health care provider immediately. Always consult with your physician or other health care provider to gain
clarification regarding any health care related questions. This content was sourced from the CDC, the CMTA Scientific Advisory Board, the
Muscular Dystrophy Association and the New York Times.
WINTER 2021 THE CMTA REPORT 5
Filmmaker
Crystal
Emery:
Energy in
Motion
and Spirit
BY MARCIA SEMMES
took the use of larly bad fall, her left hip slipped “Obstacles are those
her arms and out of place, requiring major
CMT legs from
writer/producer/filmmaker
surgery and landing her in a
body cast for two months, an
frightful things
you see when you
Crystal Emery, but it can’t touch experience she calls “nothing
her indomitable spirit. “I refuse short of traumatizing.”
take your eyes off
to be defined by the body I She walked more slowly
your goals.”
inhabit,” she says, adding, “As a after being liberated from the
deeply passionate and creative cast but continued to take dance renowned theater director Lloyd
individual, I am so much more classes and play softball. Her Richards (“The Piano Lesson”).
than a Black woman living with orthopedist said she needed She polished her craft under
a life-altering physical disability. more physical therapy, and her director Bill Duke (“A Rage in
I am energy in motion and physical therapist said she was Harlem”), then went on to earn
spirit first.” “lazy.” Faced with the doctors’ a master’s in media studies from
Crystal’s latest documentary, criticisms and lack of tangible The New School for Public
“The Deadliest Disease,” is about guidance, she eventually stopped Engagement.
the scourge of racism in health going to therapy altogether. Since then, Crystal has
care, with COVID-19 as Exhibit Crystal began to experience a produced socially conscious
A. She held a virtual screening slight drop foot in tenth grade storytelling that celebrates the
narrated by Soledad O’Brien in and by the end of high school, triumph of the human spirit on a
May 2020 and the film will be she couldn’t walk the 12 blocks variety of platforms. In addition
broadcast on American Public from high school to her job to “The Deadliest Disease,” her
Television in 2021. downtown. filmography includes “Black
Crystal grew up in New In 1981, after years of slow Women in Medicine,” both of
Haven, Connecticut, with a pas- decline, Crystal was diagnosed which she wrote, directed and
sion for acting. She wrote and with a form of CMT that affects produced. The latter has been
directed her first play in the fifth both her limbs and her respira- seen by 12 million people glob-
grade. In the sixth grade, she tory system. Once again, it ally. Her writing has appeared in
began falling without tripping. didn’t stop her—after earning numerous publications, includ-
While she intuited that some- a BA from the University of ing Time magazine and The
thing was seriously wrong, Connecticut, she began her pro- Huffington Post. Her published
everyone else wrote it off as fessional career in theater and works include the first two vol-
clumsiness. After one particu- film with an apprenticeship with umes of the Little Man children’s
6 THE CMTA REPORT WINTER 2021
book series; Against All Odds:
Black Women in Medicine; and
CMTA Board Approves
Master Builders of the Modern
World: Reimagining the Face
Grants to Jackson Lab to
of STEM (science, technology,
engineering and math).
Study Two Inhibitors
Crystal is also the founder
and CEO of URU The Right to he CMTA Board of
Be, Inc., a non-profit content Directors approved two
production company that
fosters communication and
understanding among diverse
people by discovering and
applying tangible multimedia
solutions at the intersection of
T research grants to Robert
Burgess, PhD, at the Jack-
son Laboratory in 2020.
The first grant of $45,000
will be used to explore HDAC6
(histone deacetylase 6)
the arts, humanities, science inhibitors, a potential therapeu-
and technology. Crystal’s goal is tic approach for multiple forms
to move all stakeholders toward of CMT. The many genes associ-
a more equitable and humane ated with CMT make it unlikely
world. She also conceived, that a single treatment will work
designed and launched the for all forms of the disease, but
innovative Changing the Face of preclinical studies with HDAC6
Dr. Robert Burgess, PhD
STEM national educational ini- inhibitors, which have been With the second grant of
tiative in 2015. The culmination shown to reduce motor and sen- $110,000, Dr. Burgess will study
of this initiative was a 2017 sory deficits, have demonstrated whether inhibiting SARM1 is of
congressional forum in Wash- promising results in several therapeutic benefit in multiple
ington D.C., in conjunction with mouse models of CMT. Based on forms of CMT. SARM1 (sterile
the National Academy of Sci- these promising results, scien- alpha and toll interleukin recep-
ence, attended by more than tists believe that HDAC6 tor motif containing protein 1)
500 STEM professionals, poli- inhibitors might be beneficial in was identified in fruit flies as
cymakers, educators, students treating a wide array of neurode- being actively involved in axon
and members of the media. generative conditions including degeneration and similar effects
Today, Crystal uses a demyelinating (Type were shown in SARM1
wheelchair and a ventilator, 1 and 4) and axonal Preclinical knockout mice.
relying on friends and health (Type 2) CMTs. models of The hypothesis is
aides to help her eat, bathe and Dr. Burgess, a that inhibition of
get in and out of bed. It takes
HDAC6… have
member of the SARM1 may be bene-
her 2.5 hours to get from bed to CMTA’s Scientific promising results ficial in some, but not
demonstrated
wheelchair in the morning. Advisory Board, will in several mouse all, forms of CMT.
That’s a challenge, she says, but use mouse models of models of CMT. The results obtained
the bigger challenges come in several forms of CMT in these five CMT
the way CMT affects her ability to determine which types may be models (1A, 1X, 2E, 2D, 2S) will
to hang out with friends, go to candidates for treatment with be definitive and publishable and
her family’s homes and work as HDAC6 inhibitors and whether are not part of a larger effort on
an artist. HDAC6 inhibitors may be of SARM1 in the Burgess lab. How-
Nonetheless, she says, therapeutic benefit across a vari- ever, these results are important
“CMT doesn’t dominate me. ety of CMT types. The latter will for the field and relevant to drug
It’s just like any other obstacle. help inform whether patients development efforts that are
You just have to figure out how with genetically undiagnosed already underway. Furthermore,
to get around it.” Quoting cases of CMT are likely to bene- though this proposal is a pilot of
Henry Ford, she added, “Obsta- fit from this therapeutic modest scale, the results will
cles are those frightful things strategy, or whether only select inform future research on just
you see when you take your forms of CMT may respond to how generally applicable SARM1
eyes off your goals.” k this treatment. inhibitors may be in CMT. k
WINTER 2021 THE CMTA REPORT 7
Two New Members Join Advisory Board
The CMTA welcomed two new members to its Advisory Board
in 2020, part of its mission to provide enhanced expertise in
a wide variety of fields to the community.
CHRISTINE MURRAY, MD, is a board-certified reproductive
endocrinologist and infertility (REI) specialist. She specializes in in vitro
fertilization and polycystic ovary syndrome with a special interest in
preimplantation genetic testing of embryos, a technology that helps
families deal with genetically inherited disorders and offers an
approach to building families with an increased knowledge of, and
options to address, genetically inherited syndromes.
She has spent 20 years in Vermont as an academic physician
involved with the training of medical students, residents and fellows.
After medical school at the Mayo Graduate School of Medicine, she
underwent OB/GYN residency training at McGill University in Montreal,
Christine Murray, MD Quebec, followed by a fellowship in reproductive endocrinology and
infertility. From 1999-2014, Dr. Murray worked at the University of
Vermont Medical Center and was an associate professor in the
Division of Reproductive Endocrinology. In addition to a busy clinical
practice, Dr. Murray became residency program director in 2004 and
held that position for eight years. In 2015, Dr. Murray opened
Northeastern Reproductive Medicine to bring affordable, comfortable
fertility care to patients wishing to build their families.
Dr. Murray became interested in the CMT community through her
close friendship with the Ouellette family, who started the Vermont
Cycle (and Walk) for CMT. She is interested in helping families
understand their reproductive options and hopes that her extensive
connections within the reproductive medicine community can provide
answers and assistance.
TERESA CARROLL, MS, PHD, is an organismal biologist with
more than 25 years of experience in higher education, primarily as an
associate professor of biology in Missouri. In 2016, she moved to
South Carolina, where she continued teaching at a small regional
university and is currently writing topic-specific manuals for use in
undergraduate biological labs.
Diagnosed with CMT1X in 1994, Teresa is an advocate and
long-time supporter of the CMTA and has spent many hours since her
diagnosis studying the scientific literature on CMT1X in an effort to
understand her condition. Given that her career included taking com-
plex biological information and making it comprehensible for
Teresa Carroll, MS, PhD
undergraduate biology majors, Teresa is excited to have the opportu-
nity to use those skills to build patient-friendly communications that
help her fellow CMT patients and their families better understand
the disease. k
8 THE CMTA REPORT WINTER 2021
Walks 4 CMT Raised Nearly $180,000
volunteers
hosted 26
CMTA
THE CMTA THANKS
virtual
all the leaders and
participants for their
walks in 2020, raising nearly
flexibility and creativity
$180,000 despite the
in raising research
funds during this
disruptions and restrictions
difficult time. The
caused by the pandemic.
leaders are:
Because the 2020 Walks 4
CALIFORNIA
CMT were virtual, participants
Los Angeles:
were not limited by time or loca-
Alani Price and John Ramos
Palo Alto:
tion. Teams held smaller walks
Ori Bash and Tau O’Sullivan
with their families and walk
San Diego: Kendall Trout
COLORADO
leaders held virtual events using
Denver: Carol Ris
Zoom and social media. Many
DISTRICT OF COLUMBIA
kicked things off with a fun
Washington: Steve Weiss
FLORIDA
activity like a Bingo or trivia for our walk in the local newspa- and led solely by volunteers. Any
Miami: U of Miami CMT Clinic
game night, then walked for an per, and I was featured on a local city or town can host a Walk 4
Parkland: Lara Rustici
Tampa: Sarah Gentry
entire month, some in smaller program on our ABC affiliate in CMT—all it takes is one leader to GEORGIA
groups, all with proper social Syracuse.” step forward. The CMTA makes
Atlanta: Jeannie Zibrida
distancing. Mike went on, “We should it simple to host a walk with a
ILLINOIS
The Syracuse, NY Branch have a good time and gather, Walk4CMT.org website, turnkey
Chicago: Doreen Pomykala
MAINE
kicked off its walk with a face even during these rough times templates for sponsorship and
Peaks Island: Mary Louie
mask fashion show on Zoom and with the pandemic. I feel that a marketing and support from our
MARYLAND
went on to beat both last year’s positive outlook helps with dedicated staff. k
Baltimore: Clark Semmes
MASSACHUSETTS
record and their goal for this meetings and other activities.
Boston: Jill Ricci
year. According to Branch We were very fortunate this year
NEW YORK
Leader Mike Casey, “After a cou- to have the Bucks County, PA
If you want to be part of Long Island: Jessica Aviles
Syracuse: Mike Casey
ple of weeks, I decided that if we and Albany, NY Branches join
this amazing success,
OHIO
were going to make a Virtual us. I can't wait until next year
look for a 2021 walk at Cincinnati: Jill Stuhlmueller
Walk successful, we had to keep when we can have a walk in
www.Walk4CMT.org. Cleveland: Shelly McMahon
Columbus: Jessica Diamond
a positive outlook. So, I used my person.”
Or if you’re ready to host OKLAHOMA
email and was on Facebook on a The CMTA is one of the few
a Walk 4 CMT in your Lonna Henry
very regular basis asking for national non-profit organizations
community, contact PENNSYLVANIA
Pittsburgh: Debbie Czarnecki
donations. I got more exposure with a walk campaign organized
CMTA Events Manager Julie Chester County: Ashley Trout
Tarle at julie@cmtausa.org. TENNESSEE
Nashville: Teresa Shoaf
TEXAS
Dallas/Ft. Worth:
Thomas Roderiguz
2020 WALK 4 CMT WASHINGTON
Seattle: Emily Osborne
HIGHLIGHTS ONTARIO, CANADA
Fergus: Kelly Hall
26 Walk 4 CMT Events
459 Participants
11 Sites Raised Over $5k
5 Sites Raised Over $10k
DC Walk Raised a
Record-Breaking $42,000
Top Team “The Mighty Quinn” in
Washington, DC Raised $22,810
Parkland (FL) Walk 4 CMT
$180,000 Raised for CMT Research
WINTER 2021 THE CMTA REPORT 9
Advances in Genetics:
New Tools for Prospective Families
BY CHRISTINE MURRAY, MD
dvances in genetic tech- disorder. Huntington’s disease are more common among certain
nology have allowed for and Marfan syndrome are exam- populations. Comprehensive car-
A the development of
powerful tools to assist
people as they begin to
plan their families. Multiple
techniques are available to pro-
vide prospective parents with
ples of autosomal dominant
inheritance. X and Y chromo-
somes can also carry genetic
mutations: Hemophilia and frag-
ile X syndrome have an X-linked
inheritance pattern.
rier screening panels now test
for nearly 300 single-gene
defects. The American College of
Obstetrics and Gynecology rec-
ommends that women have
genetic carrier screening as part
valuable information to plan and The Human Genome Project, of their routine prenatal evalua-
prepare. This overview, while not a multinational scientific collab- tion. Reproductive options for
comprehensive, offers a look into oration completed in 2003, is at-risk couples include IVF with
what modern genetic analysis widely considered one of the preimplantation genetic testing
can do. most ambitious scientific under- (PGT), conception with donor
A review of basic genetics takings of all time. The finished eggs or sperm or adoption.
provides a good starting point. project sequenced 3 billion DNA
Human beings have cells con- letters covering 99 percent of the
taining 46 chromosomes: Two human gene-containing regions.
NON-INVASIVE PRENATAL
will code for gender at birth (X It is hard to overstate the NiPT is a genetic test that is per-
TESTING/SCREENING
and Y). The remaining 22 auto- tremendous impact of this under- formed once pregnancy has been
some pairs consist of maternal taking. The results have been established. It requires a simple
and paternal DNA. These paired used to identify a genetic source blood draw and can be done as
chromosomes contain hundreds for a multitude of medical issues, early as nine to 10 weeks of preg-
of thousands of DNA strands— including cancers, as arising from nancy. The test analyzes tiny
genes that code for all the traits specific mutations. Understand- fragments of cell-free DNA from
that make us who we are. ing the genetic basis of disease the developing placenta to assess
Defects in any of these genes can opens the door for specific diag- the genetic health of the devel-
lead to specific disorders. Such nostic tools and treatments. oping baby.
single-gene mutations can be Unlike carrier screening,
inherited in an autosomal reces- which provides information
sive manner, which means that about specific genes, NiPT is
GENETIC CARRIER
an affected child received one Carrier screening refers to a used to detect chromosomal dis-
SCREENING
defective gene from each parent. blood test that can identify silent orders that are caused by the
The parents, each having gene mutations. Prospective par- presence of an extra or missing
only one affected gene, are con- ents are now routinely offered copy (aneuploidy) of a chromo-
sidered silent carriers and are this screening to identify some of some. NiPT primarily looks for
not affected by the disorder. the most common mutations like trisomy 21 (Down syndrome),
Their offspring has a 25 percent the genes for cystic fibrosis (CF), caused by an extra chromosome
chance of having the disorder spinal muscular atrophy and at position 21, trisomy 13 and 18
and a 50 percent chance of being fragile X syndrome. This basic and extra or missing copies of
a silent carrier. carrier panel is offered to one the X and Y chromosome. NiPT
Examples of autosomal potential parent. If a silent can also identify gender. NiPT is
recessive disorders are cystic mutation is identified, the other a screening test, which means
fibrosis, sickle cell anemia and parent is tested. There are that it cannot give a definitive
spinal muscular atrophy. Some expanded panels recommended answer about whether the preg-
disorders are autosomal domi- for parents based on their ethnic nancy is affected. The test can
nant—inheriting only one backgrounds. Tay Sachs, sickle only estimate whether the risk of
abnormal gene will lead to the cell anemia and the thalassemias having certain conditions is
10 THE CMTA REPORT WINTER 2021increased. An abnormal result is then performing a biopsy of the detect the presence of the spe-
usually followed by more defini- embryo to remove a small num- cific mutation gene: Two copies
tive testing (amniocentesis or ber of cells that can then be indicate an affected embryo; one
chorionic villous sampling). tested. Typically, an embryo is copy would identify embryos
grown (incubated) in a labora- destined to become genetic carri-
tory for five days after ers of CF and those without
fertilization. A 5-day-old embryo probe activity would be consid-
PREIMPLANTATION
Since 1974, IVF has been used (blastocyst) has an inner cell ered unaffected.
GENETIC TESTING
to help millions of couples who mass—which is destined to To illustrate, a prospective
were unable to conceive for a become the baby—and an outer mother is tested for cystic fibro-
variety of reasons: blocked cell mass (trophectoderm) that sis and found to be a silent
Fallopian tubes, issues with will ultimately develop into the carrier of a CF mutation. Her
ovulation or sperm production placenta and amnion. Using an partner is then tested and is also
and endometriosis, to name a incredibly small and precise a carrier of a CF mutation. There
few. It is estimated that over laser, a small opening is made in is a 25 percent chance of having
8 million babies have been con- the wall of the embryo and cells a baby with cystic fibrosis, which
ceived via IVF since Louise are removed from the trophecto- affects multiple organs—particu-
Brown—the first IVF success— derm. The embryo is then frozen larly the lungs. Incredible
was born in 1974. while the cells are tested. advances in treatments have
The advent of preimplanta- PGT-A tests the cells for an been made and, armed with this
tion genetic testing (PGT) has abnormal number or pairing of knowledge, the couple may elect
added another group of prospec- chromosomes (aneuploidy). to proceed with conceiving on
tive parents: those who have Selecting embryos with a normal their own. They could also
family or personal histories of number and arrangement of decide to conceive using an egg
genetically inherited conditions chromosomes (euploid) to trans- or sperm from a donor who does
or who are at a higher risk of fer back to the patient not carry the CF mutation. They
chromosomal anomalies due to significantly increases the might choose to adopt. They can
advanced maternal age or recur- chances of a healthy pregnancy. also elect to have IVF and test
rent unexplained pregnancy PGT-M refers to testing the their embryos for cystic fibrosis.
losses. embryos for single-gene muta- PGT-M is now widely
PGT refers to the process of tions like the one that causes CF. utilized to identify embryos
creating embryos via IVF and A probe is created that can (continued on page 13)
WINTER 2021 THE CMTA REPORT 11Youth Council Member Emmily Stufflet (front row, center) held a fundraiser
and awareness event for CMT at her high school in Florida in 2020.
Youth Council Gearing Up
for Big Fundraising Year
embers of the CMTA’s “Walk a Mile in Our Braces,” a Maya Grochowska, “Attending
Youth Council raised book charting the experiences of Camp Footprint and meeting so
M
in 2021.
more than $7,000 for
the CMTA in 2020
and look forward to
keeping the momentum going
“This is the year we get the
75 youth with CMT and the first-
ever Global Online Dance-a-thon
4 CMT.
The council has also devel-
oped a “Fundraising E-Kit,” a
presentation filled with informa-
many other kids with CMT
inspired me to be more open
about my CMT. And it made me
want to raise money for the
CMTA. Meeting other kids with
CMT drove home that I’m not
whole community of youth tion on the different ways to alone and all of us with CMT
involved because together there fundraise and get involved. The deserve hope for a cure.”
is no stopping us,” the Youth E-kits are downloadable and tai- Hannah Roberts said she
Council’s Fundraising Commit- lored specifically for situations is “inspired to raise money for
tee—Elijah Tolz, Paola Martinez like school fundraisers, Walks 4 the CMTA because of its com-
and Evan Zeltsar—said in a CMT and birthday celebrations. mitment to research and passion
statement. They are available on the CMTA for community. I’m inspired
The three are spread out on website. because of my tribe and the
opposite coasts but share a pas- Two young fundraisers impact for future generations
sion for fundraising to cure CMT shared their motivation for help- living with Charcot-Marie-
and are “determined and ready ing the CMTA. According to Tooth disease.” k
to encourage other youth in the
community to make a difference.”
Plans for 2021 include a vir- FOR MORE INFORMATION on getting involved with the
tual bingo game, publication of CMTA’s Youth Program, go to www.cmtausa.org/youthprogram.
12 THE CMTA REPORT WINTER 2021peripheral nerve axon or the novo mutations would not be
myelin sheath. More than 100 identified by traditional PGT-M
GENETIC TESTING
genes have been identified in techniques.
(continued from page 11)
affected by a great number of CMT, with each gene linked to Advances in genetic and
genetically inherited disorders one or more types of the disease. reproductive technologies can
that demonstrate a specific In addition, multiple genes can expand reproductive options for
pattern of inheritance. Some be linked to one type of CMT. many who, until recently, had
disorders, however, are consid- Moreover, the inheritance pat- very few. They can provide
ered multifactorial. There may tern can be autosomal dominant, knowledge to aid in planning
be a genetic component, but X-linked or autosomal recessive. and preparedness for pregnan-
other factors are required to It can also appear as a de novo cies affected by heritable medical
develop a specific disease. For mutation. disorders or chromosomal
example, some women may have While these variations pre- abnormalities and ultimately
a BRCA mutation. While this sent a challenge to probe expand our approach to the diag-
confers a significantly increased development for PGT-M, it is nosis and treatment of complex
risk of breast and ovarian can- still an option for many. Perhaps diseases.
cer, not everyone who carries as many as 50-60 percent of For more information, a
the mutation will develop the cases involve the duplication of helpful start can be found at
disease. Some genetic disorders the PMP22 gene on chromosome ReproductiveFacts.org. k
carry a highly variable inheri- 17. Traditional PGT-M can be
Christine Murray, the newest member
tance pattern. considered in such cases. Some of the CMTA Advisory Board, is a
CMT is in this category. cases can involve the deletion of board-certified reproductive endocri-
CMT is caused by mutations in this gene or some other variant; nologist and infertility (REI) specialist.
She specializes in in vitro fertilization
genes that support or produce these cases typically require
and polycystic ovary syndrome with a
proteins involved in the struc- phasing-clinical testing of the special interest in preimplantation
ture and function of either the patient’s parents. Presently, de genetic testing of embryos.
WINTER 2021 THE CMTA REPORT 13INNERVATORS
WHY I GIVE:
For anyone thinking of donating to the
CMTA or its STAR research program,
ACCORDING TO THE DICTIONARY,
an innervator is a nerve stimulator. According to the
Howard Landis has four simple words
CMTA, an INNERVATOR is an action-oriented donor
of advice: “Now is the time.”
who gives monthly to the organization, sustaining
STAR (Strategy to Accelerate Research), our premier
research initiative, as well as important community
initiatives like Camp Footprint, Patient/Family
Conferences and educational programs. All of these Howard has a late-onset their genome sequenced may
programs require steady, reliable support from
form of CMT 2 for which the cul- have hundreds of disease-caus-
prit gene has not yet been ing mutations, Howard
committed donors. Please join the Innervators today!
identified, but the fact that the explained. Most of these variants
www.cmtausa.org/cmta-innervators
exact cause hasn’t yet been are harmless—everyone has
pinned down doesn’t stop him thousands of mutations—and
Tracy Adamson Mr. and Mrs. Ryan Meloni
from getting involved and giving. determining which one is not is
Scott Allen Ronnie Mendoza
As he noted, “The research com- the challenge. The challenge is
Brendan Bennett Mr. and Mrs. Jacob Mersing
Lorna Brand William Millar
munity is doing its part and is much easier if there is a second
Dr. and Mrs. William Buchanan Mrs. Susan Moore
making tremendous advances. and a third patient, who might
Cynthia Carroll Ms. Alba Moratinos
Now is the time to join the be halfway across the world, with
William Chandler Ms. Cara Natale
Peter Cherpes David Nelson
CMTA in supporting them with the same mutation. “It is a gross
David Coldiron Gary Oelze
your contributions, and now is oversimplification to say that
Peter Cole Mr. and Mrs. Pamela Palmer
the time to have your genome identifying culprits is a numbers
James Copeland Jeannie Palmero
John Cordonnier Jonathan Preston
sequenced if you have an game, but there is a sense in
Diane Covington Susan Rems
unidentified form of CMT. Your which this is true,” Howard
Grace Dipisa Raymond Roth
funds and your genomes will explained. He noted that the
Ms. Marilynn Dodge Mrs. Margery Sayward
undoubtedly make a difference.” Genesis Project faces a number
Mitchell Fedde Mr. and Mrs. Mario Scacco
Mr. and Mrs. Rick Fansler Donald Schlosser
Howard is particularly inter- of barriers—i.e., many people
Mrs. Arya Fritz Bruce Spackman
ested in the work that Dr. with unidentified forms of CMT
Tim Garmager Joyce Steinkamp
Stephan Züchner is doing on do not know that they have the
Mr. and Mrs. Stephen Giles Mr. and Mrs. Jim Stetor
Amy Gray Mrs. Barbara Stuck
unidentified Type 2s at the Gen- disease and many who have been
Mr. and Mrs. Jay Grife Brett Taylor
esis Project at the University of diagnosed have not had their
Diane Gross Mrs. Patricia Tedford
Miami. Genesis, a cloud-based genome or exome sequenced. In
Randy Gunn David Thomas
Mr. and Mrs. William Helmke Mr. and Mrs. Ophir Trigalo
database designed for storing addition, some researchers and
Diann Jackson Payton Turner
and analyzing genomic data, companies don’t wish to share
Mark Johnsen Lynn Upton
recently identified a new form of their data.
Doug Kampe Angela Vandersteen
CMT affecting an estimated Breaking down these barri-
Heather Kercher Bruce Vieira
Drs. Craig and Andrea Kesack Steve Williard
3,000 people in the United ers is more important than ever
Ella Lafara Robert Wills
States. Howard is on the board given the progress being made
Jennifer Larkin Daniel Woltjer
of Genesis, which is available to with gene therapy and other
Rosemarie Littleton
the worldwide research commu- treatments, Howard said, noting
nity, making the challenge of that the Genesis researchers who
“I am an Innervator because I know the
identifying culprit genes easier. recently located a new gene also
budgetary challenges nonprofits face in
With more genomes and exomes identified an existing medication
terms of planning. So often the bulk of
from CMT patients available to that will treat and possibly cure
giving occurs late in the fourth quarter.
researchers, the research com- the disease. “That sort of thing
If enough people provide monthly giving
over the course of the year, it will provide
the CMTA with the stable funding it
munity could identify many just wasn’t possible even five
more forms of CMT. years ago,” he added.
needs to fulfill its mission of ridding the
Individuals with an uniden- Howard’s own CMT journey
world of this affliction.” —David Coldiron
tified form of CMT who have was different than most. He had
14 THE CMTA REPORT WINTER 2021HOWARD LANDIS
no significant symptoms when his genome has been sequenced
he was diagnosed 12 years ago at and if Howard’s culprit gene is
the age of 54. He grew up on a identified researchers will be
small farm in Pennsylvania and able to determine if he had the
wasn’t aware of any CMT symp- disease too. Howard has one sib-
toms in his earlier years ling and one child and so far
although he has a high instep neither shows signs of CMT.
and was prone to ankle sprains. Howard initially viewed the
He went on to work in Manhat- CMTA as a resource for learning
tan as an accountant and more about the disease, then
consultant for a couple of years later began attending
and then spent most Patient/Family Con-
of his career with a Now is the ferences and online
small private equity webinars. He says
firm in Connecticut. that his experiences
time to join
He was referred to a have been uniformly
the CMTA in
neurologist by an positive and that he
supporting the Howard Landis
orthopedist treating research “continues to be organization that is well run, he
him for a shoulder community… amazed at the caliber added, noting that the CMTA has a
injury. The orthope- and dedication of the 4-star rating from Charity Naviga-
dist noticed some wasting in the people that are working to sup- tor—and a clearly defined mission
area between his thumb and port CMT patients and the that has a reasonable chance of
index finger and thought it research community that is succeeding.
might be CMT. A nerve conduc- working hard to find treatments Currently retired and living
tion test confirmed his hunch. and cures for CMT.” in South Florida, Howard closely
Howard thinks his father, Howard says the CMTA fits follows CMT research and lives
who passed away several years into his philosophy of giving, which out his own philosophy of giv-
ago, probably had CMT. He was is whether it makes a difference. ing—making a difference in the
never seen by a neurologist, but Ideally, that means giving to an lives of everyone with CMT. k
!
BECOME AN INNERVATOR!
Support the CMTA’s Life-changing Initiatives with a Monthly Gift
Complete and return to: CMTA • PO Box 105 • Glenolden, PA 19036
l $15 monthly l $25 monthly l $50 monthly l $100 monthly l $500 monthly l Other: $_______________________
Charge my l Visa l MasterCard l American Express Donate online at www.cmtausa.org/donate
Name______________________________________________________________ Card #________________________________________________Exp. Date__________
Signature________________________________________ Address_____________________________________________________________________________________
City______________________________________________ State_________ Zip_______________________ Phone_____________________________________________
Please send me CMTA updates via email at: ______________________________________________________________________________________________________
To give a gift of stock or learn about leaving a legacy gift to the CMTA, please call or email Jeana Sweeney, 800-606-2682 x106 / jeana@cmtausa.org.Three New CMTA Centers of Excellence
The CMTA designated three
new Centers of Excellence
in 2020, bringing the
international total to 40.
Adding to the CMTA’s wide
network of clinical support
ensures that as many people
as possible have access to
expert advice and care. Like
all of the centers, they are led
by professionals with deep
experience in treating CMT.
N E W J E R S E Y DR. FLORIAN THOMAS, at the Hackensack University
Medical Center in New Jersey, has cared for people with CMT and engaged in
CMT research for over 30 years. He has long been active with CMT advocacy
groups, and in 1998 co-founded the CMTA peer support group in St. Louis,
Missouri. He is fellowship-trained in neuromuscular research and board-certified
in neurology and neural repair and rehabilitation. He is the chair of the Neuro-
science Institute and the Department of Neurology at Hackensack Meridian
School of Medicine. He has published on several CMT subtypes, identified, with
an international team of collaborators, a novel CMT disease gene and spearheaded two of the first
clinical drug trials for CMT in the United States. Additional treatment studies are being initiated.
For appointments, call 551-996-1324 or email Annerys.Santos@HMHN.org.
C O L O R A D O DR. MICHELE YANG is a pediatric neurologist at Children’s
Hospital Colorado with certification in neuromuscular disorders and
electrophysiology. She trained at the Children’s Hospital of Pittsburgh in
pediatrics and child neurology, at Beth Israel Deaconess Medical Center in
electromyography and at Children’s Hospital of Philadelphia in pediatric
neuromuscular medicine.
For appointments, call 720-777-3907 or email Allison.ballard@childrenscolorado.org.
C A L I F O R N I A DR. ALEXANDER FAY, at the University of California San
Francisco (UCSF), is a pediatric neurologist with a focus on neuromuscular
disorders. He obtained his PhD in biophysics and his MD from UCSF and
completed his child neurology residency and neuromuscular fellowship at
Washington University in St. Louis. Since joining the faculty at UCSF, he has
devoted his time to identifying a novel form of CMT in a large family from South
America, developing CRISPR-based therapeutics for CMT2, serving as an
investigator on several clinical trials for childhood neuromuscular diseases and expanding his
neuromuscular practice to include UCSF Benioff Children’s Hospitals in both San Francisco and
Oakland. He is a native of the Bay Area and is proud to be serving this community.
For appointments, call 415-353-7596 or email Audrey.glancy@ucsf.edu.
16 THE CMTA REPORT WINTER 2021Named In 2020
CMTA CENTER OF EXCELLENCE CLINICAL DIRECTOR
Cedars-Sinai Medical Center (Los Angeles)..................................................................................Drs. Matthew Burford and Richard Lewis
Children's Hospital Colorado (Aurora)* ..............................................................................................................................Dr. Michele Yang
Children’s Hospital of Philadelphia (Philadelphia) ...............................................................................................................Dr. Sabrina Yum
Children’s Hospital of Pittsburgh (Pittsburgh)*.........................................................................................................Dr. Hodas Abdel-Hamid
Children’s National Hospital (Washington, DC)* .................................................................................................Dr. Diana Bharucha-Goebel
Connecticut Children’s Medical Center (Farmington) ..........................................................................................................Dr. Gyula Acsadi
Hackensack University Medical Center (Hackensack, NJ)* .............................................................................................Dr. Florian Thomas
Hospital for Special Care* (New Britain, CT) ....................................................................................................................Dr. Kevin J. Felice
Johns Hopkins University (Baltimore) ...............................................................................................................................Dr. Thomas Lloyd
Kane Hall Barry Neurology (Dallas/Fort Worth)* .............................................................................................................Dr. Sharique Ansari
Lucile Packard Children’s Hospital at Stanford (Palo Alto) ......................................................................Drs. John Day and Ana Tesi Rocha
Massachusetts General Hospital (Boston) .................................................................................................................Dr. Reza Seyedsadjadi
Nationwide Children's Hospital (Columbus)* ....................................................................................................................Dr. Zarife Sahenk
Nemours Children’s Hospital (Orlando) ............................................................................................................................Dr. Richard Finkel
Northwestern Memorial Hospital (Chicago)* ...................................................................................................Dr. Daniela Maria Menichella
Ohio State University (Columbus).............................................................................................................................Dr. Samantha LoRusso
Oregon Health & Science University (Portland)* ................................................................................................................Dr. Chafic Karam
Rush University (Chicago)* ........................................................................................................................................Dr. Ryan D. Jacobson
Stanford Neuroscience Health Center (Palo Alto) ....................................................................................................................Dr. John Day
University of California (San Francisco)* ...................................................................................................................................Dr. Alex Fay
University of Colorado (Aurora)* ........................................................................................................................................Dr. Vera Fridman
University of Florida (Gainesville)* ...................................................................................................................................Dr. James Wymer
University of Illinois at Chicago (Chicago)* ................................................................................................................Dr. Charles K. Abrams
University of Iowa (Iowa City) ............................................................................................................................................Dr. Michael Shy
University of Miami (Miami) .............................................................................................................................................Dr. Mario Saporta
University of Michigan (Ann Arbor)*..............................................................................................................................Dr. Dustin Nowacek
University of Minnesota (Maple Grove) ................................................................................................................................Dr. David Walk
University of Missouri (Columbia)..........................................................................................................................Dr. Raghav Govindarajan
University of North Carolina (Chapel Hill)* .......................................................................................................................Dr. Rebecca Traub
University of Pennsylvania (Philadelphia) ......................................................................................................................Dr. Steven Scherer
University of Pittsburgh Medical Center (Pittsburgh)*......................................................................................................Dr. Sasha Zivkovic
University of Rochester (Rochester, NY) .......................................................................................................................Dr. David Herrmann
University of Texas Southwestern (Dallas)* ..................................................................................Drs. Susan Iannaccone and Diana Castro
University of Utah (Salt Lake City) .............................................................................................................................Dr. Russell Butterfield
University of Washington (Seattle) ...................................................................................................................................Dr. Michael Weiss
Washington University SOM St. Louis (St. Louis)* ...........................................................................................................Dr.Stefanie Geisler
Wayne State University (Detroit)...................................................................................................................................................Dr. Jun Li
*These Centers of Excellence are not part of the INC.
INTERNATIONAL
The Children’s Hospital (Westmead, Australia)...............................................................................................................Dr. Manoj Menezes
The National Hospital for Neurology & Neurosurgery (London, England) ...............................................................................Dr. Mary Reilly
C. Besta Neurological Institute (Milan, Italy) .................................................................................................................Dr. Davide Pareyson
University of Antwerp (Edegem, Belgium) ......................................................................................................................Dr. Jonathan Baets
CMTA CENTERS OF EXCELLENCE are patient-centric, multidisciplinary CMT clinics where
children, adults and families affected by CMT can be assured of receiving comprehensive
care by a team of CMT experts. The Centers roughly correspond to the 21 international sites
that make up the NIH Inherited Neuropathies Consortium (INC)—a group of academic medical
centers, patient support organizations and clinical research resources sponsored in part by
the CMTA. The centers will become even more important as the CMTA begins clinical trials,
which will depend on how much we know about the “natural history” of CMT—how different
types of CMT progress over time and whether novel medications are slowing the course of
the disease. Much of that information will be supplied by the Centers of Excellence.
CMTA CENTERS OF EXCELLENCE
www.cmtausa.org/coe
WINTER 2021 THE CMTA REPORT 17You can also read
