The Paris Adult Leukodystrophy Reference Center

Specialized in the diagnosis, care, and treatment of adult patients with leukodystrophies, or genetic white matter diseases of the brain.

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The Paris Adult Leukodystrophy Reference Center

Specialized in the diagnosis, care, and treatment of adult patients with leukodystrophies, or genetic white matter diseases of the brain.

Learn more

Adult Leukodystrophies

Leukodystrophies are rare genetic diseases that impair the synthesis or maintenance of myelin, primarily affecting glial cells.

They are categorized into two types: hypomyelinating and demyelinating leukodystrophies.

These progressive neurodegenerative diseases can manifest during childhood, adolescence, or adulthood.

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Photo équipe CRMR 2026

The Team

The Reference Center for Adult Leukodystrophy is multidisciplinary team that aims to provide the best support to patients diagnosed with leukodystrophies. It consists of physicians, a neuropsychologist, a psychologist, engineers, a dietitian, a genetic counselor, a secretary, and a social worker.

See the entire team

Clinical Trials

Our clinical trials and studies focus on two major areas:

  • Researching biomarkers for early diagnosis to improve patient care;
  • Developing new therapies for leukodystrophies.

Some of our trials are still recruiting patients. You can contact us for more information.

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Therapeutic trials

Studies with treatments

Observational studies

Monitoring and progression of the disease

Fundamental research studies

Blood collection from affected patients for analysis

Our Publications and Communications

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Actualité : Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research
Publications
· 7 April 2026

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research

This study reports outcomes of hematopoietic stem cell transplantation (HSCT) in an international cohort of patients with CSF1R-related disorder, a rare adult-onset leukoencephalopathy characterized by progressive neurodegeneration. The results suggest that HSCT may stabilize or slow disease progression in selected patients, particularly when performed at an early stage, although responses are variable. The study highlights […]
Actualité : Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
Publications
· 7 September 2025

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.

This study reports outcomes of hematopoietic stem cell transplantation (HSCT) in an international cohort of patients with CSF1R-related disorder, a rare adult-onset leukoencephalopathy characterized by progressive neurodegeneration. The results suggest that HSCT may stabilize or slow disease progression in selected patients, particularly when performed at an early stage, although responses are variable. The study highlights the importance of careful patient selection, timing of intervention, and multidisciplinary evaluation, while also emphasizing the need for further data to better define efficacy and long-term outcomes.
Actualité : Therapy advancements in metachromatic leukodystrophy
Publications
· 5 May 2025

Therapy advancements in metachromatic leukodystrophy

This review summarizes recent advances in metachromatic leukodystrophy, highlighting improved understanding of disease progression, variability of clinical presentation, and the importance of early treatment. It emphasizes that therapies such as stem cell transplantation and gene therapy are most effective before symptom onset, supporting the development of newborn screening, while noting ongoing challenges in treatment timing, patient selection, and access to care.

Therapeutic Education for Patients

Our therapeutic education program for patients (in French, Education Thérapeutique du Patient, ETP) called “Leucodyssée,” is directed to patients, parents of minors, and caregivers. It consists of five workshops that will allow attendees to own and better manage their disease.

See the program

Upcoming Events

Discover our upcoming events, multidisciplinary consultation meetings (in French Réunion de Concertation Pluridisciplinaire, RCP), and Leucodyssée workshops.

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Our Network

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