Ammodo award and US approval for LUMC Duchenne gene therapy

9 March 2021• NEWSITEM

Professor Annemieke Aartsma-Rus from Leiden University Medical Centre (LUMC) has received the Ammodo Science Award for her research into the muscular disease Duchenne. But that is not all. In late February, a gene therapy for Duchenne, of which Aartsma-Rus and colleagues are the founders, was approved for use in patients in the United States.

For years, Aartsma-Rus has been researching the hereditary muscular disease Duchenne, which occurs mainly in boys. Aartsma-Rus' group was one of the first in the world to show that a certain form of gene therapy, exon skipping, could slow down the disease. For this important work, she received the Ammodo Science Award on March 9.

Making code readable 

"Patients with Duchenne do not produce a working dystrophin protein due to a mutation, which weakens their muscles. We use exon skipping to make the genetic code for dystrophin readable again. This makes it possible to produce partially functional dystrophin again. We do this with antisense oligonucleotides (AON)", says Aartsma-Rus.

One of these AONs was approved for use in patients with Duchenne in the United States on 25th February. It is already the third AON developed by the LUMC that has received approval. "A result we are very proud of," says Aartsma-Rus. Because Duchenne is caused by multiple mutations, several AONs are needed. In the LUMC, Aartsma-Rus developed AONs that skipped mutations in exon 51 and 53; now exon 45 is added. The latter is expected to provide a solution for 8% of all patients with Duchenne.

Inhibiting the disease

The hope is that these therapies will also be approved in Europe in the near future. Aartsma-Rus emphasises that these AONs have only been approved on the basis of restored dystrophin production. Ongoing clinical studies should show whether the recovered dystrophin production is sufficient to slow down the course of the disease.

Ammodo Science Award

Since her PhD, Aartsma-Rus has been focusing on Duchenne disease and finding a gene therapy. For this work, she has already received a VIDI grant from ZonMw, grants from the Prinses Beatrix Spierfonds and the EURORDIS Black Pearl Science Award. The Ammodo Science Award can now be added to this. This award is intended for excellent, internationally recognised mid-career scientists who have been promoted no longer than fifteen years ago. The organisation mainly praises Aartsma-Rus for her close cooperation with patient organisations.

For more information on the award, see More information on the approval of the Duchenne gene therapy can be found in the press release of Sarepta Therapeutics.

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