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.
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.
Our clinical trials and studies focus on two major areas:
Some of our trials are still recruiting patients. You can contact us for more information.
Studies with treatments
Monitoring and progression of the disease
Blood collection from affected patients for analysis
In this podcast, Professor Mochel emphasizes the importance of a dialogue between pediatricians and adult physicians for the understanding and management of inherited metabolic diseases and leukodystrophies.
In this study, we tested a new treatment, leriglitazone, in 116 men with adrenomyeloneuropathy as part of a randomized, placebo-controlled trial.
Metabolic leukodystrophies should be considered in all patients with patterns of white matter abnormalities that are not evocative of an inflammatory or vascular process. Metabolic leukodystrophies typically present with bilateral and symmetrical white matter involvement, either fascicular or confluent. Biochemical analyses should be conducted as first-line investigations, including blood tests for cholestanol, homocysteine, very long-chain […]
In this podcast, we discuss the clinical presentations and imaging findings of adult patients with MTHFR (methylenetetrahydrofolate reductase) deficiency. This rare disease, often associated with leukodystrophy, is treatable but still under-recognized in adults. Most patients develop symptoms in childhood, but adult-onset forms exist, making it important for neurologists and internists to know about this condition and search for it through the measurement of homocystein levels.
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.
Discover our upcoming events, multidisciplinary consultation meetings (in French Réunion de Concertation Pluridisciplinaire, RCP), and Leucodyssée workshops.
