News about the four children with childhood cerebral adrenoleukodystrophy treated by gene therapy



Written on Wednesday 11 September 2013

Each year, ELA gives you an update 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 clinical trial for adrenoleukodystrophy (ALD).  A few years ago, Andy, Angel, Andrés and Clément, four children originating from Spain and France, were offered this experimental treatment. We have kept in touch with the families in order to bring you some news about the children.

Remember ! In 2009, the American journal Science published the results of the gene therapy trial for ALD performed by Pr. Patrick Aubourg and Dr. Nathalie Cartier and partly funded by ELA*. In this approach, clinicians chose to combine autotransplantation and gene therapy in children who could not undergo allogeneic bone marrow transplant as no donor was available. Therefore, bone marrow stem cells were harvested from the patients, genetically corrected in the laboratory and reinfused to the patients. Up to now, Andy, Angel and Andrés from Spain and the young Frenchy Clément, are the only children with ALD who received this experimental therapy.  Their families share with us some news about them.

* With 7,6 millions Euros dedicated to ALD research since 1992, ELA is first organization funding it.

 

Andy, 15 years old

He was only 8 years old when he was treated. It was in August 2006. Deciding to have him treated was a easy decision to take for his family: the disease was already detected for Oscar, his deceased older brother. It allowed to have Andy diagnosed quickly before the onset of the first symptoms. Today as an adolescent, he continues to attend a special need school due to his mental deficiency. His condition is stable. He is still treated with corticoids to address his adrenal insufficiency. And no other complications have been observed.

 

Angel, 13 years old

AngelLike Andy, Angel’s disease was identified thanks to the diagnosis of his older brother who passed away. He received his autotransplantation in January 2007 and developed a year and a half after the first symptoms of the disease. His vision, immediate memory and sense of direction are impaired. Thankfully, after stablisation of the treatment, the disease course stopped. Today, his brain lesions are stable. He lives a roughly a normal life besides his vision impairment that impedes him to get out of his house by himself. He keeps on going to school and follows classes fitting his visual disability. In particular, he learns how to read Braille and to use a stick when he gets around. He takes corticoids continuously and goes annually to Paris for a control with Pr. Patrick Aubourg (instead of twice a year).

 

 

Andrés, 13 years old

The decision was not easy to take for Andrés’ family, but in the end they decided to have him treated by gene therapy. Diagnosed after been admitted to the hospital for an important gastroenteritis which was actually hiding adrenal insufficiency Andrés, a problem often associated to ALD, the at the time 8 years old boy underwent autotransplantation in June 2008. It was a shock for him and his parents as he looked very healthy. Five years after, Andrés continues his corticoid treatment. Now he also takes a drug for his thyroid impairment. He still shows difficulties to communicate: he keeps on singing but does not talk. He does not play or write but his mother witnesses some improvements in his daily life: more dynamic, he stands up alone and gets closer to people. But he needs the help of someone when he gets out because he does not see the danger when he crosses a street for example. This year, he will attend a new special need school where they will get him outside more often and he will be having physiotherapy, a paramedical discipline using water, air, radiation and more as a therapy.

 

Clément, 7 years old

Clément was the last boy to receive the therapy in September 2010. Like Andy and Angel, he was diagnosed thanks to the testing of his family. His cousin, Pierre-Alexandre, suffered ALD and died in 2008 when he was 26 years old. Three years after the treatment, Clément remains the same. He goes to elementary school and plays differents sports (cycling, swimming, fishing, pony). Overall he lives a normal life excepting if we consider he has to get continously his daily corticoid treatment.