X-linked adrenoleukodystrophy (ALD) is a worldwide genetic disease, rare and serious, of the family of leukodystrophies. Its incidence of 1 for 17 000 births makes it, however, the most common type of leukodystrophy. It is a metabolic disease which affect the brain, the bone marrow and peripheral nerves, but also the adrenal (and the testis) as part of its name « adreno- » refers to.

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.

As a member of the Leuconnect e-cohort, you can easily access clinical trials and play a key role in research.
Accelerating research in the field of leukodystrophy is one of the major challenges facing the ELA association and the main objective of Leuconnect. Leuconnect supports the implementation of clinical trials by facilitating patient recruitment and providing access to open clinical trials on the platform. The patients registered in the cohort form a community that is available and motivated to participate in online studies.

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.

New things on Leuconnect !
With the support of Fondation Roche, ELA created tutorial videos to help you with your registration on the website and with its use. Four videos are provided to help you navigate the platform.

Communicate with LEUCONNECT
In the previous issue of ELA info magazine, you discovered how to register to LEUCONNECT and participate in the e-cohort of patients. As a member of LEUCONNECT e-cohort, you can now communicate with other families concerned by leukodystrophies. With them, you are a community.
In this issue, you will learn how to communicate with LEUCONNECT.

In the previous issues of ELA Info, you have seen how to register to Leuconnect e-cohort and how to communicate using the secure messaging tool. Today, you will discover how to fill in your "patient record". It gathers a set of information concerning your pathology, its situation, its evolution. It allows you to monitor your disease.

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.