Meeting
Families/Researchers meeting 2024
The Families/Researchers meeting took place online on April 6th and 7th 2024 afternoon
With a simultaneous translation in 5 languages (German, English, Spanish, French, Italian, Czech) this meeting was open to the international community of patients concerned by leukodystrophy and once again gives the opportunity to gather around researchers from around the world.
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Discover the whole meeting Families/Researchers
Families/Researchers virtual meeting 2024 – Jour 1
Day 1
Introduction
00:00 Guy ALBA – President of ELA International
Adrenoleukodystrophy (ALD) – adrénomyeloneuropathy (AMN)
06:17 Stephan KEMP (The Netherlands): Newborn screening for X-linked adrenoleukodystrophy
33:53 Florian EICHLER (United-States): Benefits and risks of ex vivo gene therapy for childhood cerebral adrenoleukodystrophy
59:34 Elise YAZBECK (France) : Interim results of the open-label study, NEXUS, about the efficacy of leriglitazone in the treatment of pediatric cerebral adrenoleukodystrophy
01:17:00 Lisa SCHAFER (Germany): Multi-professional online care for symptomatic women with ALD – Results of the SMART-ALD study
01:38:00 Fanny MOCHEL (France): X-adrenoleukodystrophy in French adult patients: new treatments, new monitoring
Genetic and undetermined leukodystrophies – Pelizaeus-Merzbacher Disease (PMD) and others hypomyelinating leukodystrophies
02:00:34 Françoise PIGUET (France): Genetics basics, heredity and therapy of undetermined leukodystrophies
02:27:00 Nicole WOLF (The Netherlands): Pelizaeus-Merzbacher disease, news
02:46:45 Vivi HEINE (The Netherlands): 4H patient brain organoids to study disease mechanisms
03:08:00 Geneviève BERNARD (Canada): RNA polymerase III-related hypomyelinating leukodystrophy
03:26:00 Pedro BRITES (Portugal): Myelin defects caused by a deficiency in Slc44a1, the choline transporter like-1
Families/Researchers virtual meeting 2024 – Jour 2
Day 2
Introduction
00:00 Guy ALBA – Président of ELA International
Megalencephalic leukoencephalopathy with subcortical cysts (MLC), CACH syndrome (VWM), Alexander and Canavan diseases
08:07 Marjo VAN DER KNAAP (The Netherlands): Update on vanishing white matter / CACH
34:54 Elly HOL (The Netherlands): Alexander Disease: why research is crucial to understand the disease and to work towards a cure
59:18 Annette BLEY (Germany): Canavan Disease: Basics and updates
Interventions outside video:
Raul ESTEVEZ (Spain): Molecular biology of MLC: looking for therapies (Confidential)
Martine COHEN-SALMON (France): Involvement of the cerebrovascular system in MLC (Unavailable)
Aicardi-Goutières Syndrome (AGS), Metachromatic leukodystrophy (MLD), Krabbe disease and Zellweger spectrum disorders
01:29:55 Soumeya BEKRI (France): Newborn screening for MLD: a global perspective
01:49:07 Caroline SEVIN (France): Therapeutic options for Metachromatic Leukodystrophy and Krabbe disease: where are we?
02:27:28 Femke KLOUWER (The Netherlands): Zellweger Spectrum
Intervention outside video:
Adeline VANDERVER (United-States): Aicardi Goutières Syndrome – Clinical updates (Confidential)
ELA Infos special n° 126
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