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SSIEM IMD Adult Course

October 21-25, 2019Paris, FranceHotel Holiday Inn Paris, Notre Dame

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Course descripti on:This course aims at providing an introducti on 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 manifestati ons and pathophysiology of the dif-ferent (groups of) disorders. Diagnosti c strategies and interpretati on of metabolic diagnosti c investi gati ons will be explored. Treatment of both acute and chronic manifestati ons, the ra-ti onale for using specifi c drugs and/or supplements and long-term complicati ons will be ad-dressed. Special att enti on will be given to the dietary treatments, their successful applicati on in many IMDs, but also their practi cal issues, adherence and potenti al complicati ons. 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 transiti on from paediatric care and pregnancies in pati ents 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 objecti ves:• understanding the biochemical basis of inherited disorders of complex molecules (e.g. gly-

cosphingolipids, glycosaminoglycans), carbohydrates, proteins, fatt y acids and intermediate metabolism

• basic knowledge of the available metabolic laboratory tests and interpretati on of their re-sults

• basic knowledge of the pathophysiology of disease manifestati ons of IMDs• knowledge on acute treatment of metabolic decompensati ons as well as chronic treatment

(including dietary treatment) and care of adult pati ents with IMDs• knowledge of the potenti al complicati ons and mode of follow up for the most prevalent

IMDs• insight in specifi c aspects of care for adults with IMDs such as care during pregnancies, care

for pati ents with cogniti ve impairment, access to treatment• clinical-based approach to diagnose pati ents with IMD in adult medicine• knowledge on informati on sources available for physicians treati ng pati ents with IMDs

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Program outline

Monday, October 21, 2019

Introducti on and lysosomal storage disorders (coordinator Robin Lachmann)Speakers: Robin Lachmann, Simon Heales and Carla Hollak

Morning: Metabolic Mayhem: Defi ciency, Intoxicati on, Storage and Degenerati on

Applied Biochemistry and the History of IMDs

Clinical Presentati ons of IMDs in Adults (e.g. energy defi ciency, hyperammonaemia, organomegaly and neurodegenerati on)

Measuring Metabolites and Making a Diagnosis (how to assess biochemical pathways in vivo)

Restoring the Balance (substrate reducti on, alternati ve pathways, enzyme enhancement and enzyme augmentati on)

Aft ernoon: Lysosomal Storage Disorders (glycosphingolipidoses as examples)

Why do Members of a Family Look so Diff erent? (introducti on to biochemistry and pathobiology of LSDs)

Meet the Family (Case presentati ons – Gaucher, Fabry, MLD, Tay Sachs etc)

Treati ng LSDs – Successes and Failures (focus on Gaucher and Fabry diseases to illustrate enzyme therapy, substrate reducti on therapy, chaperone therapy and supporti ve measures)

Evening discussion:Orphan drug prices. Carla Hollak

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Tuesday, October 22, 2019

Liver (coordinator Annalisa Sechi)Speakers: Annalisa Sechi, Janneke Langendonk, David Cassiman and Charlott e Ellerton

Clinical suspicion and diagnosis of hepati c glycogen storage disorders (GSDs)brief recapture of glycogen metabolism, general descripti on of the diff erent hepati c GSDs, diagnosis and treatments, possible presentati on in adulthood, pregnancy issues and outcomes. Annalisa Sechi

Long-term complicati ons of hepati c GSDs: long-term complicati ons, follow-up, dietary issues.

Acid lipase defi ciency: pathogenesis, clinical suspicion and diagnosis, complicati ons, diff erenti al diagnosis with other hepati c diseases and treatment. Annalisa Sechi

Hepati c porphyrias: pathogenesis, symptoms, diagnosis, treatment and long-term complicati ons. Janneke Langendonk

Liver transplantati on: When to consider liver transplantati on in IMDs in adults, pro and cons, outcomes. David Cassiman

Urea Cycle Disorders: brief recapture of biochemistry, treatment, possible presentati on in adulthood, risk of acute decompensati on, long-term complicati ons and pregnancy issues and outcomes. Janneke Langendonk

Diff erenti al diagnosis of acute hyperammonemia. David Cassiman

Interacti ve case discussions (GSDs/porphyrias/acid lipase defi ciency)

Evening discussion:Dietary management (including practi cal tasti ng session). Charlott e Ellerton

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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

Fatt y acid oxidati on disorder - Mirjam Langeveld

Case discussions metabolic myopathies - Pascal Laforêt, Mirjam Langeveld

Aft ernoon: Phenylketonuria and galactosemia

Galactosemia (main focus long-term management and complicati ons) - Robin Lachmann

Phenylketonuria: diagnosis (NBS), development, diet, complicati ons, pregnancies - Francois Maillot

Evening discussion: what to do for your adult pati ents and what not to do to with them? François Maillot

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Thursday, October 24, 2019

Brain (coordinator Fanny Mochel)Speakers: Fanny Mochel, Rita Hovarth

General introducti on - Fanny Mochel

Morning: Mitochondrial Diseases and LeukodystrophiesMitochondrial diseases - Rita HorvathLeukodystrophies - Fanny Mochel

Aft ernoon: Neurological SymptomsSpasti c paraplegia, neuropathies, movement disorders, epilepsy, psychiatric symptoms -Fanny Mochel

Evening discussion: Transiti ons from paediatrics. Fanny Mochel

Friday, October 25, 2019

Multi system disorders and acute decompensati onsSpeakers: Elaine Murphy, Mirjam Langeveld, Annalisa Sechi, Fanny Mochel

Organic acidurias - Elaine Murphy

Diagnosing IEMs in adults with unsolved multi system disorders - Mirjam Langeveld

Acute decompensati ons - Elaine Murphy, Mirjam Langeveld, Annalisa Sechi, Fanny Mochel

Wrap up

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SSIEM IMD Adult Course

October 21-25, 2019Paris, FranceHotel Holiday Inn Paris, Notre Dame4, Rue Danton75006 Paris, France

Organiser:Society for the Study of Inborn Errors of Metabolism (SSIEM)Registered Offi ce: 130-132 Tooley StreetLondon SE1 2TUUnited Kingdom

Course Chairs: Fanny Mochel, ParisMirjam Langeveld, AmsterdamRobin Lachmann, LondonAnnalisa Sechi, Udine

Conference Organisati on: Society for the Study of Inborn Errors of Metabolism (SSIEM)Mr Ralph KerschbaumerRegistered Offi ce: 130-132 Tooley Street, London SE1 2TUUnited KingdomE: corporateliaison@ssiem.orgT: +43-512-890438

Applicati ons for registrati on at:htt p://www.ssiem.org/amp/events.asp

Online applicati on will be open unti l 30th June 2019 and should include a lett er giving reasons why to att end the course together with a CV. Applicants will be noti fi ed of the decisions in early August 2019.

Registrati on fee: EUR 150,00

Includes: • Course Admission/ Scienti fi c Programme Monday – Friday • Up to fi ve nights of accommodati on 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• Coff ee, tea, lunches and dinner Monday-Friday