Gene therapy and adrenoleukodystrophy: news of the four treated children



Written on Thursday 8 November 2012

As we do each year, we have taken stock of 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 for adrenoleukodystrophy (ALD). To date, four children suffering from ALD have received this experimental treatment. First of all Andy and Angel benefited from it, followed by Andrès and by Clément. We have thus questioned the four Spanish ELA families and ELA France to get the news of these children.

For a reminder, the results of the ALD gene therapy, led by Pr. Patrick Aubourg and Dr. Nathalie Cartier, were published in November 2009 in the specialist journal, Science. Since its creation in 1992, ELA has followed the research and is the primary financial backer, having invested 7 million euros over 20 years. In this approach, the medical team chose to use autografting linked to gene therapy in children where a classical bone marrow transplant could not be attempted because of lack of a donor. Stem cells from patients’ bone marrow were withdrawn and corrected genetically in the laboratory, before being re-injected into the patients.

Andy, 14 years old and a native of Spain, was the first to have benefited from this experimental therapy in August 2006. The illness had been detected in his elder brother Oscar, which had allowed a rapid diagnosis to be made for Andy. Today, this boy is well. His state has not evolved since his last visit to Pr. Aubourg in Paris and he continues to take corticoids to treat his suprarenal deficiency. No complication has been observed and his state is stable. Andy leads a normal life and continues to go to school.

For Angel, a Spaniard aged 12, the illness was also detected thanks to the diagnosis in his big brother. Angel is the second patient to benefit from this experimental therapy, in January 2007. Today, Angel is well. He suffers from the same neurological damage observed after treatment stabilization. His eyesight had been altered, as had his immediate memory and sense of orientation. Nevertheless, he leads a normal life, like other boys of his age. He continues to go to school, even though his limitations prevent him from keeping up with his friends. Like Andy, Angel takes corticoids daily and has a control visit with Pr. Aubourg in Paris every 6 months.

Andrès, a 12 year old native of Spain, was diagnosed following hospitalization for severe gastroenteritis that hid a suprarenal impairment, an abnormality often linked to ALD. Andrès was treated by gene therapy in June 2008. Four years later, the young boy still has problems, but his mother has noticed improvements. He is more active and moves more than previously. Andrès has no immediate memory and since 2010 he goes to a specialized school. He is making progress and leads a normal life. Today he follows a daily treatment of corticoids.

Clément, aged 6, is the last child to have been treated by gene therapy, in September 2010. Two years later the little boy is well. He leads a completely normal life: he runs around and goes swimming, rides a bicycle and started school at the beginning of the last school year. Clément carries on taking corticoids without any problems.