Two children suffering from adrenoleukodystrophy saved thanks to the ELA association

Two children suffering from adrenoleukodystrophy saved thanks to the ELA association, 1st organization funding research for this deadly brain disease.

The ELA association and Zinedine Zidane, its emblematic ambassador, are proud to announce a world premiere: the results regarding the Gene therapy" class="glossy" title="Procedure involving the insertion of a normal gene into an organism in order to achieve a therapeutic objective. This gene (transgene) can be the normal version of a defective gene causing disease or a gene that produces a protein with any therapeutic action." >gene therapy trial in adrenoleukodystrophy (ALD) conducted by Dr. Nathalie Cartier and Pr. Patrick Aubourg from the Saint-Vincent de-Paul hospital in Paris (France) have just been published in the prestigious journal Science. Two children have been treated and their diseases have been stopped. The children are doing well, which is unexpected for a disease destroying in a few months the brain of a child previously healthy. This discovery opens up treatment perspectives for numerous widespread diseases.

Gene therapy on adrenoleukodystrophy: a world premiere

Adrenoleukodystrophy (ALD) is the most frequent form of  the leukodystrophies. It affects nearly 30 % of leukodystrophy cases identified by the ELA association. Each year, 35 babies with adrenoleukodystrophy are born in France, but death often occurs during childhood.

Until now, the treatment for ALD relied on bone marrow transplant, an approach which is limited by the scarcity of donors and the risk of serious complications. With this new approach, physicians have chosen to perform an autologous graft combined with gene therapy. For this procedure, the bone marrow stem cells of the patients are harvested, and then corrected in the laboratory before being transplanted back into the patients. Some of these cells will naturally find their way to the patient’s brain where they will display their correcting potential. Another innovation: a vector derived from a modified and inactivated HIV virus was used to insert the correct gene into bone marrow cells. HIV represents the only virus able to introduce a therapeutic gene into the nucleus of non-dividing cells, like stem cells and neurons, in order to allow a long-term effect of this gene.

With 7 million Euros invested, ELA is the first organization funding research on ALD.

These very large amounts of money have been gathered thanks to the actions undertaken by millions of school children, to the support of the French Ministry of Research, to the generosity of all the donors. Also, the involvement of our partners and ambassadors, led by Zinedine Zidane and Florent Pagny, contribute to this success.

A discovery that will benefit other diseases

Today, ELA is even prouder of this result because such an innovative approach opens up treatment possibilities for other types of leukodystrophies and most importantly to other widespread diseases (sickle cell anemia, beta-thalassemia and multiple immunodeficiencies, hemophilia, Parkinson’s disease, …) which could benefit from a similar gene therapy treatment using a HIV-derived vector.

The success of a patient advocacy group fighting for 17 years…

Founded in 1992 by Guy Alba, parent of a child with ALD, with the encouragement of Pr. Aubourg, chairman of the scientific committee until 2008, ELA brings together European families affected by leukodystrophies, a group of genetic diseases that destroy the myelin (nerve sheath) in the brain. Since its creation, ELA pursues the same goals: support patients, gather families and fund medical research. To accelerate the discovery of a treatment, ELA founded its own research foundation in 2005 with the support of the French Ministry of Research. The foundation’s efforts and momentum permitted dedicating 30 million Euros for all kind of leukodystrophies.

In addition, ELA cares for patients and brings special attention to those who may not benefit from research advances. That’s why ELA commits 4.3 million Euros for the support of patients and their families needs. With the same motivations, ELA supports the development of similar organizations in Europe (Belgium, Spain, France, Italy, Luxembourg, and Switzerland).

…and ELA is planning for more

  1. extend the trial in Europe and recruit new patients including adults
  2. develop a newborn screening test
  3. offer the therapy to all ALD patients

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