Fuchsia Facioscapulohumeral Muscular Dystrophy (FSHD) Study

Muscular dystrophy (MD) refers to a group of conditions that cause muscle weakness that gets worse over time. It is caused by changes (mutations) in genes that you inherit from your parents. The different types of MD vary in terms of when symptoms develop, which muscles they affect and how severe they are. Facioscapulohumeral muscular dystrophy (FSHD) is an inherited disease that often affects muscles in your face and upper body but can spread to any muscle in your body. Symptoms typically develop between adolescence and age 20 to 30. There’s no cure for FSHD, but there are therapies to ease your symptoms and help you keep up your quality of life.

Types of facioscapulohumeral muscular dystrophy

The two types of FSHD cause the same symptoms, but happen for different reasons:

• FSHD1, which accounts for 95% of cases, happens when a gene that’s supposed to be inactive in most of your cells becomes active. The reactivated gene makes proteins that destroy muscle cells.
• FSHD2 accounts for the remaining cases. Like FSHD1, protein from a reactivated gene damages muscle. However, FSHD2 occurs when a different gene mutates, or changes, causing the activation of previously inactive genes.

Researchers believe FSHD affects between 4 and 10 people in 100,000.

About the investigational treatment/therapy

The overproduction of the DUX-4 protein in muscle cells causes symptoms of FSHD. This treatment is designed to stop the overproduction of this protein and slow symptoms of FSHD. This is a gene therapy designed to deliver potential permanent alterations within the epigenome system, directly targeting the muscle cells where the genes associated with FSHD are located. The aim of this potential new gene therapy is to reduce muscle degenerations harmful effects and prevent further muscle damage.

The investigational treatment is an IV infusion administered by healthcare professionals at our clinics. The treatment is still in the early stages of testing. In the Study, the safety and tolerability of the therapy will be closely monitored. Participants will be closely observed for any side effects or reactions to the treatment.

This potential new innovative therapy is designed to target the root cause of FSHD at the genetic level, with the potential to slow or even stop disease progression. The study will help assess whether this approach is safe and effective for patients with FSHD.

Purpose 

The primary objective of this study is to evaluate the safety and tolerability of the new therapy in participants with FSHD Type 1. This involves monitoring any side effects or reactions to the treatment and ensuring it can be safely administered. The other purpose of this study is to assess the effectiveness of the new therapy in improving muscle function and strength in FSHD patients. This includes tracking changes in walking speed and muscle strength over time, as well as examining the biological activity of the therapy to determine if it’s having the desired impact on muscle health.

Reason to participate

Your involvement in this study may help advance scientific knowledge that could contribute to the development of a new therapy and better treatment for people with the same disease in the future. Joining the study could give you access to a potential new treatment for FSHD before it is available elsewhere.

About the study

Study Visits

• If eligible, you would attend regular visits over the next 12 months, with check-ups continuing up to 5 years. These visits will include tests to measure muscle strength, function, and mobility.

Treatment

• The new treatment will be given through a single IV infusion.
• You’ll also take a medicine to help manage any possible side effects.

Safety Monitoring

• You will be closely monitored for any side effects, with regular tests to check your liver function, heart health, and muscle performance.

Follow-Up

• After the initial treatment period, you’ll return for periodic check-ups to assess the effectiveness of the treatment.