World Muscle Society Executive Board member Professor Francesco Muntoni has been awarded the World Duchenne Organisation's Leadership Award, the highest recognition for individual achievement.
Prof Muntoni is Director of the Dubowitz Neuromuscular Centre at Great Ormond Street Institute of Child Health and Great Ormond Street hospital. This award acknowledges and celebrates exemplary leadership that has a significant and positive impact on advancing therapy development for people with Duchenne and Becker muscular dystrophy.
In 2018, the first gene therapy trials were announced. The community wholeheartedly embraced the concept. It seemed such a long time coming. With great interest and enthusiasm, families screened for studies, hoping and praying that they would have the opportunity to participate.
As studies expanded, so did our learning. We heard terms such a Serious Adverse Event (SAE) and Adverse Event (AE), that emphasize that we have a great deal to learn about gene therapy and increase our awareness that there is risk involved. The simple statement ‘one and done’ or ‘mutation agnostic’ may not tell an accurate story.
As additional gene therapy companies initiated trials, we learned of additional SAEs. This did not dampen our enthusiasm, though there were a growing list of questions around risk. What are/were the circumstances? What happened? Is the person ok?
Professor Muntoni reached out to every company engaged in gene therapy studies, insisting that they share data across these events, understand them and learn from them. He knows well that there is risk in AAV-based gene therapy, but to the degree possible, he believed that by sharing these learnings, patients would have greater protection and the field of gene therapy would progress more rapidly.
While the Duchenne community is blessed with many amazing scientists and physicians, Professor Muntoni’s actions demonstrate the need to share data, to learn from every study, to protect patients as we move into these exciting and potentially life changing therapies.
About Prof Francesco Muntoni
Prof Francesco Muntoni is the director of the Dubowitz Neuromuscular Centre at Great Ormond Street Institute of Child Health and Great Ormond Street hospital. He leads a large multidisciplinary team involved in the development and implementation of standards of care for neuromuscular disorders in the UK and globally. He identified more than 30 neuromuscular genes and has led a consortium that identified an optimal sequence to induce exon 51 and 53 skipping in DMD patients with eligible deletions. He performed investigator led first in man studies with this antisense oligonucleotide that subsequently became the first FDA approved drug in 2016 (eteplirsen). He led the FP7 SKIP-NMD EU consortium in which golodirsen, a novel morpholino antisense oligonucleotide targeting exon 53 was developed for DMD.
About World Duchenne Organization
World Duchenne Organization is a worldwide organization, based in the Netherlands, with member organizations in over 50 countries, dedicated to finding a cure and viable treatments for DMD, to promoting good standards of care, and to informing parents around the globe. There is a compelling need to ensure that wherever they are in the world, the children suffering from this disease can benefit from a standard of care that is informed by the best practice of the best clinicians from all over the world. It is equally important that the information available to parents is contemporary, truthful and is based upon the latest research.