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the MLD initiative

Strategy Data elements and endpoints Protected: Collaborations Project group

Towards a better disease management of metachromatic leukodystrophy through a European disease registry

One dimensional MLD dashboard with a map of Europe. The estimated number of MLD patients in Europe is 3100. Currently 89 patients are registered in the MLD initiative patient registry. Currently there are 2 ongoing therapeutic trials. The MLD initiative is collaborating with 11 expert centers worldwide.

The MLD initiative (MLDi) is a European disease registry for metachromatic leukodystrophy (MLD). MLD is a rare inherited lysosomal storage disorder. The disease is caused by autosomal recessively inherited pathogenic variants in the ARSA or PSAP gene. A functional deficiency of the enzyme Arylsulfatase A leads to sulfatide accumulation throughout the body. Especially myelin sheaths (= white matter) in the central and peripheral nervous systems are severely affected. Patients suffer from progressive neurological deterioration and, if untreated, it leads to premature death.

The MLD initiative collects patient data for research and healthcare purposes. Researching rare diseases is difficult because of small patient numbers. Therefore, clustering data in a European database is needed.

Objectives

● One independent disease registry for MLD in Europe.

● To make this registry the product of a collaboration with expert centers in Europe. Thereby optimising the registry and maximising its impact.

● To collect data for clinical research on MLD.

● To collect data for research on the long-term outcomes of the novel therapies reaching the market. In order to answer both clinical and regulatory questions.

What is the MLD initiative?

• A European patient registry for patients with MLD

• An international collaborative project with expert centers on MLD

News

Marketing authorisation for Libmeldy™

December 17, 2020 – The gene therapy, in which the patient receives autologous CD34+ cells encoding ARSA gene, is authorized by the EMA.

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