Gene therapy saves two children with adrenoleukodystrophy

The ELA Association represents the largest funder for research on this fatal brain disease

The ELA association and Zinedine Zidane, its emblematic ambassador, are proud to announce a world premiere: the results regaring the gene therapy in adrenoleukodystrophy conducted in France have just been published in the prestigious journal Science. Two children have been treated and their diseases have been halted. The children are doing well, which is unexpected for a disease destroying the brain in a few months. This discovery opens up treatment perspectives for numerous widespread diseases.

Adrenoleukodystrophy (ALD) is the most frequent form of 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.

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.

Today, ELA is even prouder of this result because this innovative approach opens up treatment perspectives 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.