Supported by angel donors and industry partners, our Therapeutic Accelerator Project is overcoming obstacles to clinical trials and FDA approval to ensure that effective therapies get to families by 2025.
Since the genetic disease mechanism was discovered in 2010, facioscapulohumeral muscular dystrophy (FSHD) research has gained momentum. Researchers are developing therapeutic candidates that block the disease mechanism in a test tube, but there is a lack of validated criteria to prove that a drug is effective in patients. This threatens to slow the drug development process. With every affected patient in mind, we have started our Therapeutic Accelerator Initiative to overcome the hurdles is and shorten the time it will take to get therapies to our families.
In March 2019, the FSHD Society convened a landmark meeting attended by FDA regulators as well as researchers from seven biopharmaceutical companies, academic scientists who are leading the effort to prepare the field for clinical trials, and representatives of patient advocacy organizations including the MDA, Friends of FSH, and Chris Carrino Foundation. The workshop introduced the FDA to FSH muscular dystrophy–the impact of the disease on individuals, why scientists think FSHD is treatable, and the progress that has been made toward clinical trials–and sought input from the FDA on how to develop methods to measure treatment effects to meet the standards for FDA approval. The findings from the workshop are summarized in a white paper, Industry Collaborative Workshop for Therapy Development in FSHD.
Therapeutic Accelerator Project areas
All of these areas require a coordinated effort to ensure that clinical trial measurement tools meet industry and FDA standards. All drug development companies will have an accepted way to measure the effectiveness of their drugs, and the most promising will go into clinical trials faster.
Genetic diagnosis. Our genetic diagnostics initiative aims to improve individuals' access to faster, more cost-effective genetic testing. This project fills a significant medical need and will enlarge the number of genetically confirmed patients for clinical trials.
Molecular biomarkers. We will develop a blood test that biopharmas can rely on to measure the effectiveness of their drugs in clinical trials.
Imaging biomarkers. While promising as a way to measure whether a drug is working, magnetic resonance imaging (MRI) findings must be confirmed and proven to correlate with other measures such as strength and function.
Integrating global patient registries & natural history studies. We are working on ways to aggregate and analyze data across multiple registries to gain a more rigorous, comprehensive view of the condition.
Patient-focused Drug Development meeting. In June of 2020, the FSHD Society convened the landmark externally-led patient-focused drug development (EL-PFDD) meeting on FSHD. The resulting Voice of the Patient Report has been submitted to the FDA and EMA.
Health economics outcomes research. The Society is analyzing large medical claims datasets to better understand FSHD prevalence, patient journey, and the direct and indirect economic costs associated with this diagnosis.
International care considerations guideline. Updating care standards for the international community will benefit patients and standardize baselines in clinical research and trials.
Anybody can do the
ordinary…We are being
challenged to do the
- Mark Stone
President and CEO