Meeting
Families/researchers 2025 symposium
An international meeting between patients, families and scientists specializing in leukodystrophiess
On March 15 and 16, a new edition of the Families/Researchers symposium was held online, bringing together families from all over the world affected by leukodystrophies and researchers working on these pathologies. The researchers’ speeches are now available.
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Find out more about the Families/Researchers symposium
Families/researchers 2025 symposium – Day 1 – Part 1
00:00 Introduction by Guy Alba, Chairman of the Board of ELA International
07:43 Adrenoleukodystrophy (ALD) – Adrenomyeloneuropathy (AMN)
Chaired by Florian Eichler
11:09 Progress in the diagnosis of ALD: neonatal screening and functional testing – Stephan Kemp (Netherlands), Triana Amen (United Kingdom)
35:00 Gene therapies for leukodystrophies and updates on ALD gene therapy – Florian Eichler (USA)
56:21 Pediatric care for patients with ALD and 2-year results from the Nexus study – Élise Yazbeck (France)
1:15:55 News on biomarker studies in men and women with X-ALD – Fanny Mochel (France)
1:41:55 Safer use of registry data through innovative approaches – Julia Lier (Germany)
Families/researchers 2025 symposium – Day 1 – Part 2
0:08 Pelizaeus-Merzbacher Disease (PMD) and other hypomyelinating leukodystrophies
Chaired by Adeline Vanderver
2:00 Hypomyelination and clinical presentations – Nicole Wolf (Netherlands)
19:20 Suppression of TUBB4A expression in H-ABC leukodystrophy – Sunetra Sase (USA)
40:15 ASO PMD clinical trial – Steffi Dreha-Kulaczewki (Germany)
1:10:35 Development of a gene therapy for PMLD1 – Kleopas Kleopa (Cyprus)
1:39:15 Organoid models derived from patients’ brains to study leukodystrophies – Vivi Heine (Netherlands)
Families/researchers 2025 symposium – Day 2
Genetics and undetermined leukodystrophies – CACH syndrome (VWM), megalencephalic leukoencephalopathy with subcortical cysts (MLC), Canavan disease and Alexander disease
Chaired by Assumpció Bosch
3:23 Introduction by Guy Alba, Chairman of the Board of ELA International
11:26 Could gene therapy treat MLC? Perspectives from mouse models – Assumpció Bosch (Spain)
31:06 Current research on Alexander’s disease and implications for patients – Elly Hol (Netherlands)
Metachromatic leukodystrophy (MLD), Aicardi-Goutières syndrome (AGS), Krabbe disease and Zellweger spectrum disorders
Chaired by Françoise Piguet
55:17 Gene therapy for metachromatic leukodystrophy – Françoise Piguet (France)
1:12:35 Aicardi-Goutières syndrome – Yanick Crow (United Kingdom)
1:29:30 Exploring the therapeutic potential of in vivo gene therapy for Krabbe disease – Alessio Cantore (Italy)
1:46:00 Zellweger spectrum disorders: Working towards trial readiness – Femke Klouwer (Netherlands)
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