SSIEM IMD Adult Course October 21-25, 2019 Paris, France Hotel Holiday Inn Paris, Notre Dame
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SSIEM
IMD Adult Course
October 21-25, 2019
Paris, France
Hotel Holiday Inn
Paris, Notre Dame
1
Course description:
This course aims at providing an introduction into the biochemical basis, pathophysiology,
diagnosis and treatment of Inherited Metabolic Diseases (IMDs) in adults. Lectures and work-
shops will cover the biochemical basis, clinical manifestations and pathophysiology of the dif-
ferent (groups of) disorders. Diagnostic strategies and interpretation of metabolic diagnostic
investigations will be explored. Treatment of both acute and chronic manifestations, the ra-
tionale for using specific drugs and/or supplements and long-term complications will be ad-
dressed. Special attention will be given to the dietary treatments, their successful application
in many IMDs, but also their practical issues, adherence and potential complications. Where
applicable, disorders will be discussed by the main organ system involved: liver, brain and mu-
scle. Examples of other subjects that will be discussed during the course are transition from
paediatric care and pregnancies in patients with IMDs.
Target audience:
Adult physicians (especially neurologists, endocrinologists, internists, hepatologists, geneti-
cists, etc.) with some basic knowledge of and exposure to IMDs that wish to acquire further
knowledge of these disorders.
Learning objectives:
• understanding the biochemical basis of inherited disorders of complex molecules (e.g. gly-
cosphingolipids, glycosaminoglycans), carbohydrates, proteins, fatty acids and intermediate
metabolism
• basic knowledge of the available metabolic laboratory tests and interpretation of their re-
sults
• basic knowledge of the pathophysiology of disease manifestations of IMDs
• knowledge on acute treatment of metabolic decompensations as well as chronic treatment
(including dietary treatment) and care of adult patients with IMDs
• knowledge of the potential complications and mode of follow up for the most prevalent
IMDs
• insight in specific aspects of care for adults with IMDs such as care during pregnancies, care
for patients with cognitive impairment, access to treatment
• clinical-based approach to diagnose patients with IMD in adult medicine
• knowledge on information sources available for physicians treating patients with IMDs
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Program outline
Monday, October 21, 2019
Introduction and lysosomal storage disorders (coordinator Robin Lachmann)
Speakers: Robin Lachmann, Simon Heales and Carla Hollak
Morning: Metabolic Mayhem: Deficiency, Intoxication, Storage and Degeneration
Applied Biochemistry and the History of IMDs
Clinical Presentations of IMDs in Adults (e.g. energy deficiency, hyperammonaemia,
organomegaly and neurodegeneration)
Measuring Metabolites and Making a Diagnosis (how to assess biochemical pathways in vivo)
Restoring the Balance (substrate reduction, alternative pathways, enzyme enhancement and
enzyme augmentation)
Afternoon: Lysosomal Storage Disorders (glycosphingolipidoses as examples)
Why do Members of a Family Look so Different? (introduction to biochemistry and
pathobiology of LSDs)
Meet the Family (Case presentations – Gaucher, Fabry, MLD, Tay Sachs etc)
Treating LSDs – Successes and Failures (focus on Gaucher and Fabry diseases to illustrate
enzyme therapy, substrate reduction therapy, chaperone therapy and supportive measures)
Evening discussion:
Orphan drug prices. Carla Hollak
2
Tuesday, October 22, 2019
Liver (coordinator Annalisa Sechi)
Speakers: Annalisa Sechi, Janneke Langendonk, David Cassiman and Charlotte Ellerton
Clinical suspicion and diagnosis of hepatic glycogen storage disorders (GSDs)
brief recapture of glycogen metabolism, general description of the different hepatic GSDs,
diagnosis and treatments, possible presentation in adulthood, pregnancy issues and
outcomes. Annalisa Sechi
Long-term complications of hepatic GSDs:
long-term complications, follow-up, dietary issues.
Acid lipase deficiency: pathogenesis, clinical suspicion and diagnosis, complications,
differential diagnosis with other hepatic diseases and treatment. Annalisa Sechi
Hepatic porphyrias: pathogenesis, symptoms, diagnosis, treatment and long-term
complications. Janneke Langendonk
Liver transplantation: When to consider liver transplantation in IMDs in adults, pro and cons,
outcomes. David Cassiman
Urea Cycle Disorders: brief recapture of biochemistry, treatment, possible presentation in
adulthood, risk of acute decompensation, long-term complications and pregnancy issues and
outcomes. Janneke Langendonk
Differential diagnosis of acute hyperammonemia. David Cassiman
Interactive case discussions (GSDs/porphyrias/acid lipase deficiency)
Evening discussion:
Dietary management (including practical tasting session). Charlotte Ellerton
3
Wednesday, October 23, 2019
Muscle and miscellaneous (coordinator Mirjam Langeveld)
Speakers: Pascal Laforêt, Mirjam Langeveld, Francois Maillot and Robin Lachmann
Morning: Muscle
Brief recapture of carbohydrate, fat and energy metabolism in muscle - Mirjam Langeveld
Metabolic myopathies - Pascal Laforêt
Fatty acid oxidation disorder - Mirjam Langeveld
Case discussions metabolic myopathies - Pascal Laforêt, Mirjam Langeveld
Afternoon: Phenylketonuria and galactosemia
Galactosemia (main focus long-term management and complications) - Robin Lachmann
Phenylketonuria: diagnosis (NBS), development, diet, complications, pregnancies - Francois
Maillot
Evening discussion:
what to do for your adult patients and what not to do to with them? François Maillot
4
Thursday, October 24, 2019
Brain (coordinator Fanny Mochel)
Speakers: Fanny Mochel, Rita Hovarth
General introduction - Fanny Mochel
Morning: Mitochondrial Diseases and Leukodystrophies
Mitochondrial diseases - Rita Horvath
Leukodystrophies - Fanny Mochel
Afternoon: Neurological Symptoms
Spastic paraplegia, neuropathies, movement disorders, epilepsy, psychiatric symptoms -
Fanny Mochel
Evening discussion:
Transitions from paediatrics. Fanny Mochel
Friday, October 25, 2019
Multisystem disorders and acute decompensations
Speakers: Elaine Murphy, Mirjam Langeveld, Annalisa Sechi, Fanny Mochel
Organic acidurias - Elaine Murphy
Diagnosing IEMs in adults with unsolved multisystem disorders - Mirjam Langeveld
Acute decompensations - Elaine Murphy, Mirjam Langeveld, Annalisa Sechi, Fanny Mochel
Wrap up
5SSIEM IMD Adult Course
October 21-25, 2019
Paris, France
Hotel Holiday Inn Paris, Notre Dame
4, Rue Danton
75006 Paris, France
Organiser:
Society for the Study of Inborn Errors of Metabolism (SSIEM)
Registered Office: 130-132 Tooley Street
London SE1 2TU
United Kingdom
Course Chairs:
Fanny Mochel, Paris
Mirjam Langeveld, Amsterdam
Robin Lachmann, London
Annalisa Sechi, Udine
Conference Organisation:
Society for the Study of Inborn Errors of Metabolism (SSIEM)
Mr Ralph Kerschbaumer
Registered Office: 130-132 Tooley Street, London SE1 2TU
United Kingdom
E: corporateliaison@ssiem.org
T: +43-512-890438
Applications for registration at:
http://www.ssiem.org/amp/events.asp
Online application will be open until 30th June 2019 and should include a letter giving reasons
why to attend the course together with a CV. Applicants will be notified of the decisions in
early August 2019.
Registration fee: EUR 150,00
Includes:
• Course Admission/ Scientific Programme Monday – Friday
• Up to five nights of accommodation at Hotel Holiday Inn Paris Notre Dame
• Refund of travel expenses (up to EUR 300,00 European/ up to EUR 500,00 Non-European)
upon receipts
• Coffee, tea, lunches and dinner Monday-Friday
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