Understanding what rare neuromuscular disease patients want from future clinical trials

What is it about?

Facioscapulohumeral muscular dystrophy (FSHD) is a rare, genetic condition, which causes muscles to weaken and waste over time. The name FSHD reflects the muscles most often affected: the facial muscles (facio), shoulder girdles (scapulo) and upper arms (humeral). There are currently no treatments to cure FSHD. Current treatment options aim to slow the progression of the disease or enhance the patient's quality of life, such as physical therapy, pain management and surgery. Developing new treatments in rare diseases is challenging. There are small numbers of patients, with different genetic diagnoses and presenting with a variety of differing symptoms. It brings significant value if the voice of the patient is included in trial design and recruitment, as they have a unique understanding of the preferences and limitations of their patient communities. There is a growing interest from several pharmaceutical companies to run clinical trials in FSHD across Europe. This study aimed to understand the FSHD community’s perspective, so that when clinical trials are developed, they are designed and organized in a way to maximize patient involvement and participation. The study was commissioned by FSHD Europe who represent patient organisations across Europe, and carried out by the John Walton Muscular Dystrophy Research Centre at Newcastle University and the Newcastle upon Tyne Hospitals NHS Foundation Trust.

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Photo by National Cancer Institute on Unsplash

Photo by National Cancer Institute on Unsplash

Why is it important?

Over 1100 people from 26 countries across Europe responded to a survey, providing an incredible opportunity to hear from a large number of patients and caregivers with a rare disease. The results provide researchers and industry with areas of therapeutic research that would be meaningful to people with FSHD. It could also be used to help develop and design clinical trials to ensure they maximise patient involvement and participation. The study provides an insight into symptoms that are most important to patients, as well as gaps in therapies that are currently offered to people with FSHD.