Annemieke Aartsma-Rus
Leiden University Medical Center, The Netherlands
Title: COST action BM1207: Involving all stakeholders to overcome challenges of genetic therapy development for Duchenne muscular dystrophy
Biography
Biography: Annemieke Aartsma-Rus
Abstract
Duchenne muscular dystrophy (DMD) is a rare, progressive muscle-wasting disease leading to severe disability and premature death. Treatment is currently symptomatic, but multiple experimental therapies are in development. Implemented care standards, validated outcome measures correlating with clinical benefit, and comprehensive information about the natural history of the disease are essential for the regulatory approval of any therapy. However, for DMD and other rare diseases, these were not in place when potential therapies entered the clinical trial phase. This has resulted in suboptimal trials for DMD therapy. To address this, a cooperative effort of DMD stakeholders, including representatives from patient groups, academia, industry and regulatory agencies aimed at identifying strategies to overcome challenges, developing the tools required and collecting relevant data. This is ongoing work, but already a huge effort has been made to develop new outcome measures, collect natural history data and to develop potential biomarkers. The open and constructive dialogue among stakeholders has positively influenced therapy development for DMD, and this should serve as a paradigm for rare disease therapies’ development in general.
