From: Dr. Adeline Vanderver
Program Director of the Leucodystrophy Center of Excellence
Children’s Hospital of Philadelphia, Philadelphia, PA 19104 – USA

Aicardi Goutieres Syndrome (AGS) is a genetically heterogeneous disorder that can be caused by mutations in a series of genes with a final endpoint of upregulation of the IFN pathway and the innate immune system.

In this article we will first describe the procedures of bone marrow transplant and gene therapy, before describing the applications and results obtained in leukodystrophies.

Because leukodystrophies are rare diseases, too few patients are involved in research for these diseases although they have often acquired a great knowledge of their pathology. For this, ELA France and ELA International have created LEUCONNECT, a platform to support clinical research.

ELA France and ELA International are launching Leuconnect, an online platform dedicated to help clinical research by facilitating recruitment of patients into studies and clinical trials, to help the acceleration of research on leukodystrophies in France and worldwide.