Research news and results

Discover the latest scientific advances and research results in our News & Results section, where we keep you informed of the most recent developments in the fight against leukodystrophies.

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2025 Current projects and studies

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2024 Search results

Symposium

ELA International Symposium 2024

Meeting

Families/Researchers meeting 2024

Project

Preclinical evaluation of an Anti-Fibrin Immunotherapy in a Novel Mouse Model of Cerebral ALD: Assessing Feasibility, Mechanisms, and Biomarkers to Facilitate Clinical Trial Design

Project

Exploring new molecular mechanisms and potential therapeutic strategies for MLC disease using patientderived cells

Project

Evolving the ASPA transgene for a next generation gene therapy for Canavan Disease

Project

Hematopoietic Stem Cell Genome Editing for ALSP

Project

Modeling LBSL: a mouse model with human pathogenic variants

Project

Single-cell analysis of ABCD1 transport function using ABCD1-specific probes to differentiate between benign and pathogenic variants of ABCD1

Project

Establishing efficacy and safety of HBSL gene therapy in preclinical disease models

Project

Structural and functional characterization of MLC1 protein at the atomic resolution

2023 Search results

Meeting

Families/Researchers meeting 2023

Project

Study of GPR65 as a new Krabbe disease drug target

Project

Towards understanding the molecular mechanisms of hypomyelinating leukodystrophy type 16 (HLD16), caused by a dominant mutation in TMEM106B

Project

Screening of pharmacological chaperones for Megalencephalic leukoencephalopathy with subcortical cysts

Project

A Human‐Relevant Brain‐on‐Chip for Pre‐clinical Testing of Gene Therapy for HIKESHI‐related Hypomyelinating Leukodystrophy ‐ a Proof‐of‐Concept Study for Monogenic Leukodystrophy Disorders

Project

Towards mechanism‐based therapeutics for Zellweger Spectrum Disorders

Project

Accelerating gene therapy for PMLD1

Project

Alexander disease at the nanoscale in patient‐derived brain organoids

2022 Search results

SymposiumUpdate

Symposium ELA International 2022

Meeting

Families/Researchers Meeting 2022

Project

Gene therapy to treat Megalencephalic Leukodystrophy with subcortical cysts (MLC)

Project

Liver-directed gene therapy with enhanced-bioavailability transgenes to treat nervous system pathology in globoid cell leukodystrophy

Project

Restoring astrocyte perivascular coverage linked to MLC1 deficiency to cure MLC

Project

Development of editing technologies to treat Alexander disease

Project

Chopping away the deregulated integrated stress response in vanishing white matter

Project

SCD1-mediated metabolic rerouting of very long-chain fatty acids synthesis in adrenoleukodystrophy: a novel therapeutic strategy

2021 Search results

Symposium

Symposium ELA International 2021

Meeting

Families/Researchers Meeting 2021

Project

Selective galactosylceramidase ablation to study the pathogenesis of Krabbe leukodystrophy

Clinical trial

CACH syndrome: diagnostic methods

Clinical trial

Alexander disease: update on research

Clinical trial

Pathophysiological mechanisms of megalencephalic leukoencephalopathy with subcortical cysts (MLC)

Clinical trial

Canavan’s disease: targeted gene therapy in mice

Clinical trial

Effect of progesterone antagonists in Pelizaeus-Merzbacher (PMD) mice

Clinical trial

RNA polymerase III-related diseases: update on research

Clinical trial

Update on undetermined leukodystrophies

Project

Deciphering disease heterogeneity: Spatiotemporal analysis of molecular and cellular pathology in HBSL

Project

Cell-free DNA as a new biomarker for metachromatic leukodystrophy

Project

Evaluating the role of the neuropeptide N-acetylaspartylglutamate in the pathogenesis of Canavan disease using new transgenic mouse models

Project

Unravelling the pathology and disease mechanisms of the newly identified leukoencephalopathy caused by impaired choline transport

Clinical trial

Krabbe disease: update on research

Clinical trial

1st Clinical trial for CACH syndrome

Clinical trial

Clinical trial: gene therapy by intracerebral transfer of the ARSA gene

Update on Aicardi-Goutières syndrome and presentation of the clinical trial testing antiretrovirals

Clinical trial

Leukodystrophies of undetermined cause: research and diagnosis

Clinical trial

EPI-743 clinical trial in adrenomyeloneuropathy

Infantile Refsum disease: a relatively mild Zellweger spectrum disease

Project

Anatomy and Cell Biology University of Illinois at Chicago

Clinical trial

Enzyme therapy trial with the HGT-1110 enzyme

Clinical trial

Bone morrow transplant gene therapy clinical trial for metachromatic leukodystrophy

2020 Search results

Meeting

Families/Researchers meeting 2020

Project

Closing the circle on integrated stress response treatment targets in vanishing white matter

Project

Why does regeneration fail in cerebral X-linked adrenoleukodystrophy?

Project

Evaluating the mechanisms of macrophage/microglia-mediated enzymatic cross-correction of human MLD neurons and glial cells in vitro

Project

Development of cutting-edge editing technologies to treat Alexander disease

Project

Characterization of lysosomal dysfunction and targeted intervention in X-ALD

Project

Evaluating glial and neuronal GFAP, MCP-1 and NfL as blood biomarkers for onset and disease severity in cerebral adrenoleukodystrophy

2019 Search results

Symposium

Symposium ELA International 2019

Meeting

Families/Researchers Meeting 2019

Project

Allele‐specific siRNAs as therapeutic option for ADLD: in vitro preclinical validation on unique human experimental models

Project

nanoERT ‐ Nanoparticle based Enzyme Replacement Therapy for the treatment of Krabbe disease: a pre‐clinical study in the Twitcher Mouse

Project

Megalencephalic leukoencephalopathy with subcortical cysts is an astrocyte disease of the neurovascular unit

Project

AAV‐mediated Gene Delivery for the Motor and Sensory Phenotype of Adrenomyeloneuropathy

Project

Development of chimeric lysosomal enzymes with improved bioavailability to advance gene therapy strategies for globoid cell leukodystrophy

Project

Brain organoids to evaluate a new therapeutic strategy for Adrenoleukodystrophy

2018 Search results

Project

Patient iPSC-based models for 4H leukodystrophy to identify complex neuron-glia dysfunctions

Project

Preclinical studies toward an alternative therapeutic strategy aiming to halt the inflammation in patients with cerebral adrenoleukodystrophy

Project

Gene therapy for Megalencephalic leukoencephalopathy with subcortical cysts in two animal models of the disease

Project

Preclinical studies specifically testing therapies (gene, cell, enzyme or pharmacologic therapies) for leukodystrophies

Project

Towards preclinical proof-of-concept for HBSL gene therapy

Project

Pre-clinical testing of single and combined autophagy modulation by Lithium and Rapamycin in Globoid Cell Leukodystrophy

2017 Search results

Symposium

Symposium ELA International 2017

Clinical trial

Clinical trial testing leriglitazone in men with adrenomyeloneuropathy (ADVANCE)

2015 Search results

Clinical trial

The drug MD1003 in adrenomyeloneuropathy: a randomised, double-blind, placebo-controlled study

2012 Search results

Clinical trial

2nd Clinical trial testing gene therapy in adrenoleukodystrophy