As part of its 2022 webinar series, the Rare Disease Cures Accelerator Data and Analytics Platform (RDCA-DAP) hosted a webinar on August 17, 2022 titled “Addressing the Gaps in Clinical Trial Readiness for FSHD.” The program was presented by the FSHD Society, and advocacy group for people living with facioscapulohumeral muscular dystrophy.
As a disease with no approved disease-altering therapy, the webinar was focused on the increased attention that FSHD has been getting from the pharma industry, as well as finding solutions for any weaknesses in effectively operating clinical trials for the disorder.
About Facioscapulohumeral Muscular Dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is a rare, inherited type of muscular dystrophy that is characterized by typically affecting the muscles of the face, upper arms, and shoulders first before progressing to other areas of the body. There are two variants of facioscapulohumeral muscular dystrophy that are linked to abnormal expression of a gene called DUX4. Symptoms typically begin to appear in childhood and become more pronounced in the teenage years. Other muscles also become affected, and the progression of muscle atrophy is usually asymmetrical. Symptoms include weakness of facial muscles, a fixed facial expression, difficulty raising the arms and moving them when raised, foot drop, problems with breathing, generalized muscle weakness, and hearing loss. There is currently no treatment specifically approved for facioscapulohumeral muscular dystrophy. Common interventions include mobility aids, cognitive behavioral therapy, occupational therapy, physical therapy, and, in some cases, surgery. Life expectancy can be affected when the breathing muscles begin to decline. To learn more about facioscapulohumeral muscular dystrophy, click here.
Webinar
The primary presenter was Jamshid Arjomand, from the FSHD Society. He noted that interest in developing a treatment for the disorder has increased greatly in recent years. Current therapeutic targets include DUX4 and muscle regeneration.
A significant moment that increased interest was a meeting that took place in 2019 with industry stakeholders. Jamshid also highlighted some gaps in preparedness that would make running FSHD trials difficult, such as:
- The need for measurement tools, such as biomarkers
- Clinical network and infrastructure, including better measurements of clinical outcomes
- Better grasp of FSHD natural history
- Patients willing to participate and provide input—what do patients want from trials and therapies?
Progress is being made, however, with patient registries providing a valuable source of data about the disease natural history. There are 18 FSHD registries, but they struggle with funding and attention from researchers. A core set of data that all registries can use also has yet to be established. The data these registries have been collecting also hasn’t been integrated in any way. More studies, both large and small, are needed to continue to generate interest.
FSHD can progress at different rates, and studies to understand this are also needed; this could be important for selecting trial criteria.
