13 Jun 2012

The first successes in gene therapy

Illustration for article: The first successes in gene therapy
Several world firsts were funded by the French Muscular Dystrophy Association (AFM-Téléthon) through Telethon donations, in particular the study which led to the first marketing authorisation application for gene therapy in 2009!

Success for immune deficiencies

Immune deficiencies such as X-linked severe combined immunodeficiency (X-SCID) and the deficiency linked to an adenosine-deaminase deficiency (ADA-SCID) were some of the first targets of gene therapy.

For X-SCID, the French team led by Alain Fischer and Marina Cavazzana-Calvo (Inserm, Necker hospital, Paris) and Adrian Thrasher's English team, succeeded in restoring the immune systems of twenty children treated with gene therapy. In these patients, efficacy seems to be confirmed in the medium term.

For ADA-SCID, the Italian trial led by Maria-Grazia Roncarolo (TIGET, Milan) led to successful treatment of 12 children. This team submitted the first marketing authorisation application for gene therapy in 2009.

Hope for children suffering from adrenoleukodystrophy

In November 2009, the team led by Patrick Aubourg and Nathalie Cartier (Inserm, Saint-Vincent de Paul hospital, Paris), announced in the reputable journal Science that they had stopped the evolution of a serious genetic brain disease, adrenoleukodystrophy (ALD) in two children, using gene therapy.

Apart from the hope given to families, this trial consolidates the possibility of using a new type of vector in humans. Researchers used a lentivirus, i.e. a gene therapy vector derived from HIV.

Hope for patients suffering from beta-thalassemia

Gene therapy was also used to treat a patient suffering from a severe blood disease, beta-thalassemia. This is a great victory for patients, for French researchers and also for everyone who made a donation to AFM-Téléthon.