25 September 2025
- LEUKODYSTROPHIES: HOW TO NAVIGATE?
13:30
Leukodystrophies: definition, physiopathology
Odile Boespflug-Tanguy, Bicêtre, France
14:15
Classifications of leukodystrophies
Odile Boespflug-Tanguy, Bicêtre, France & Nicole Wolf, Amsterdam, the Netherlands
15:00
Vascular leukoencephalopathies
Dominique Herve, Paris, France
16:00
Leukodystrophies in adults
Fanny Mochel, Paris, France
16:45
Multimodal natural history studies in leukodystrophies for clinical trial readiness
Adeline Vanderver, Philadelphia, USA
17:15
Quantified and standardized diffusion tensor imaging
Fanny Mochel, Paris, France
17:35
Perfusion MRI and application to adrenoleukodystrophy
Patty Musolino, Boston, USA
26 September 2025
- NEW TOOLS TO DIAGNOSE AND MONITOR DISEASE PROGRESSION IN LEUKODYSTROPHIES
- THERAPIES IN LEUKODYSTROPHIES
- WORKSHOPS
09:00
NfL and plasma biomarkers in metabolic leukodystrophies
Johannes Berger, Vienna, Austria
09:25
Molecular signatures in Aicardi-Goutières syndrome
Yanick Crow, Paris, France
09:50
Hematopoietic stem cell transplantation in leukodystrophies – ALD, MLD, ALSP
Caroline Sevin, Bicêtre, France & Nicole Wolf, Amsterdam, the Netherlands & Fanny Mochel, Paris, France
11:00
Workshop 1: MRI-based recognition pattern
Nicole Wolf, Amsterdam, the Netherlands & Odile Boespflug-Tanguy, Bicêtre, France
11:00
Workshop 2: Hematopoietic stem cell transplantation in leukodystrophies
Caroline Sevin, Bicêtre, France & Fanny Mochel, Paris, France
11:00
Workshop 3: New-born screening in leukodystrophies
Marc Engelen, Amsterdam, the Netherlands Alessandra Biffy, Padua, Italy & Florian Eichler, Boston, USA
15:00
Gene therapy in metabolic leukodystrophies – ALD, MLD, Krabbe, Canavan
Caroline Sevin, Bicêtre, France & Alessandra Biffy, Padua, Italy & Florian Eichler, Boston, USA
16:20
Small molecules in leukodystrophies :
16:20
- JAK inhibitors in interferonopathies
Yanick Crow, Paris, France
16:20
- Leriglitazone in ALD
Patty Musolino, Boston, USA & Fanny Mochel, Paris, France
17:20
Emerging gene therapies with enhanced biodistribution to target oligodendroyctes (PLP1, Vanishing White Matter disease)
Adeline Vanderver, Philadelphia, USA
27 September 2025
- ETHICAL CHALLENGES
09:00
Impact of NBS in adult metabolic medicine – “toxic knowledge” – example of ALD
Marc Engelen, Amsterdam, the Netherlands
09:30
Burden of long-term monitoring with MRI
Fanny Mochel, Paris, France
09:50
“Unethical trials”
Caroline Sevin, Bicêtre, France
10:10
The need for academic registries, international guidelines and QoL outcome measures
Nicole Wolf, Amsterdam, the Netherlands
11:00
The role of patient associations in the development of NBS programs and access to novel therapies
ELA, Alex TLC
12:30
End of the course