ELA celebrates 20 years of research into leukodystrophies

Written on Monday 12 May 2014

In 20 years, ELA has become the primary financial backer world-wide of research into leukodystrophies.

Since its creation in 1992, ELA has financed 434 research programmes with a total budget of 34.5 M€. In 1992 less than ten leukodystrophies were known, whereas today there are more than twenty for which the genetic cause has been identified. This allows the families to benefit from a molecular diagnosis and genetic counselling.

Professor Patrick Aubourg reminds us that “in its battle, ELA has maintained a role as a catalyst, bringing together to work on leukodystrophies, initially French researchers, then European ones and now international… There are many things that could not have been achieved without the highly active financial support of ELA… “.

ELA is at the origin of a world-wide first: 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 against adrenoleukodystrophy (ALD). Four children condemned by the disease have been treated.

When gene therapy trials throughout the world were at a standstill, the ELA association always knew it had to hold its course. Since its creation in 1992 ELA has invested nearly 8M€ in research into ALD. This proved profitable, because in 2009 Professor Patrick Aubourg and Doctor Nathalie Cartier published conclusive results pertaining to two sick children in the prestigious Journal “Science“. This was the beginning of a revival of world-wide interest in gene therapy.

According to Dr. Nathalie Cartier, Research Director in Inserm, “The 2 first children treated are very healthy. Their disease is totally stabilized. The third child gave a slightly less successful result and the results of the 4th are extremely encouraging “. Today these children are well and ELA supports them in their daily life, remaining attentive as to their evolution.

Starting in 2013, new gene therapy programmes will be launched on a larger scale, a reason to be optimistic for the future.

Concerning gene therapy against ALD, the aims of Dr. Nathalie Cartier for 2013 are clear: “to carry out a bigger trial in Europe and in the USA, which will allow us to treat approximately 15 children with the same therapy and the same vector“.

Today, an equivalent trial is underway for metachromatic leukodystrophy. Three affected children are currently followed in Milan and the first results are encouraging. In France, 5 children suffering from the same leukodystrophy will soon be treated by intracerebral injection.

The next steps will depend on public generosity. More than 90% of the ELA budget depends on the generosity of sponsors. They were right to have confidence in ELA. They share the first therapeutic successes with the families and the researchers.

According to Pr. Patrick Aubourg: “research advances more rapidly today… and it is indispensable that everybody rally around ELA. I will only give one example: to treat 4-5 children by gene therapy is around 4M€! ELA remains a crucial partner in this therapeutic war.

Download the report of 20 years of research into leukodystrophies