Leukodystrophies

This page provides information on leukodystrophies for which most of it has been endorsed by ERN-RND members. It is structured as follows:

  • Definition
  • ERN-RND centres
  • Diagnosis
  • Care standards
  • Clinical studies & trials
  • Registries
  • Patient organisations
  • Study groups & networks
  • Useful links, training resources, evidence and publications
  • CPMS use case

Definition

According to the European Leukodystrophies Association, "leukodystrophies, which refers to a group of rare genetic diseases, destroy the central nervous system (brain and spinal cord) in children and adults. They affect the myelin, the white substance coating the nerves like an insulating sheath." Please find more information on the ELA's website.

ERN-RND centres

We provide the list of leukodystrophies centres, members of ERN-RND, as well as the contact details of medical experts.

See all ERN-RND centres.

Diagnosis

Care standards

  • ERN-RND recommended disease rating scales
  • ERN-RND endorsed guidelines

Clinical studies & trials

  • Clinical trials at ERN-RND centres
  • International clinical studies & trials
    ClinicalTrials.gov

Registries

  • Registries to which ERN-RND members contribute
    Metachromatic leukodystrophy
    - Leukonet

    Leukodystophies
    - Leukotreat

  • Other registries

 

Patient organisations

Patient organisations are non-profit organisations which are patient-focused where patients and/or carers represent a majority of members in governing bodies (European Medicines Agency, 2014). Herewith, we provide a list of national and European patient organisations that work in the disease area that is covered by ERN-RND.

See all patient organisations.

Study groups & networks

The listed study groups and disease networks are external networks and groups, which are leaders in the field of research for these disease groups. ERN-RND’s work is based on and complimentary to the work being done by these networks.

Useful links, training resources, evidence and publications

CPMS use case

We organise e-case meetings on leukodystrophies for consensus discussions for therapeutic stem cell transplantations.

Find out more about the CPMS here