Meeting
Families/Researchers meeting 2023
The Families/Researchers meeting took place online on April 15th and 16th 2023 afternoon.
With a simultaneous translation in 5 languages (German, English, Spanish, French, Italian) 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 conference Families/Researchers
Families/Researchers meeting 2023 – Day 1
Day 1
Introduction
Guy ALBA – President of ELA International
Adrénoleukodystrophie ALD – Adrenomyéloneuropathie AMN
Isabelle WEINHOFER (Austria): A blood test to track brain damage: Biomarker‐based risk prediction for the onset of cerebral ALD
Lisa SCHAFER (Germany): Clinical symptoms and quality of life in women with adrenoleukodystrophy
Florian EICHLER (USA): Treatments for Adults with ALD: One Size Does Not Fit All
Wolfgang KOEHLER (Germany): Lessons learned from a first International controlled clinical trial with Leriglitazone in men with Adrenomyeloneuropathy
Elise YAZBECK (France): Update on the Minoryx clinical trial in childhood cerebral adrenoleukodystrophy
Genetic and undetermined leukodystrophies – Pelizaeus-Merzbacher Disease PMD – POLR3-HLD 4H
Laura ADANG (United-States) : diagnosing and management of undiagnosed leukodystrophies
Nicole WOLF (The Netherlands): Hypomyelination – what’s new?
Vivi HEINE (The Netherlands): Cortical interneuron involvement in 4H leukodystrophy
Noémie HAMILTON (UK): Modelling RNASET2 leukodystrophy in zebrafish to develop transformative therapies
Families/Researchers meeting 2023 – Day 2
Day 2
Introduction
Guy ALBA – President of ELA International
Megalencephalic leukoencephalopathy with subcortical cysts MLC, CACH syndrome VWM, Canavan and Alexander disease
Elena AMBROSINI (Italy): Molecular defects in MLC disease: how basic research can help finding therapeutic strategies
Marjo van der KNAAP (The Netherlands): Update on vanishing white matter VWM ‐ CACH syndrome
Matthias ECKHARDT (Germany): Does the neuropeptide NAAG plays a role in the pathogenesis of Canavan disease?
Angela GRITTI & Vasco MENEGHINI (Italy): Development of editing technologies to treat Alexander disease
Milos PEKNY (Sweden): Alexander disease ‐ the road ahead
Aicardi-Goutières Syndrome AGS, Zellweger Spectrum disorders, Krabbe disease and Metachromatic leukodystrophy MLD
Marie‐Louise Frémond (France): Follow‐up of an ELA‐funded trial in Aicardi‐Goutières syndrome Femke KLOUWER (The Netherlands): Zellweger spectrum disorders
Marco CECCHINI & Ambra DEL GROSSO (Italy): Nanomedicine and Autophagy modulation in the mouse model of Krabbe disease
Caroline SEVIN (France): Management and treatment options in metachromatic leukodystrophy and Krabbe disease
ELA Infos Special n° 122
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