This year, the American Society of Gene & Cell Therapy (ASGCT) held its 26th annual meeting from May 16 through May 20, 2023. In a news release, biotechnology company Epic Bio shared that the company had presented at the ASGCT meeting. This oral presentation focused on preclinical data regarding EPI-321, an adeno-associated viral vector (AAV) gene therapy that fuses inactive Cas protein to gene-suppressing modulators. EPI-321 is being developed for facioscapulohumeral muscular dystrophy (FSHD).
According to Epic Bio, DUX4 gene mutations cause a loss of methylation in the D4Z4 region. As a result, these genes are abnormally expressed, leading to muscle toxicity, tissue degeneration, and apoptosis (cell death). The company hopes that EPI-321 will re-methylate the affected region, reducing gene expression and maintaining muscle health.
During the presentation, Epic Bio shared some of the insights gleaned from preclinical data. Data was presented from the study of both cell lines and animal models of FSHD. First, one dose of EPI-321 significantly limited DUX4 expression. In mice models, this treatment also improved skeletal muscle cell health and survival by 55%.
In the future, Epic Bio hopes to begin studying this therapy in humans and work towards the development of better therapeutic options for people with facioscapulohumeral muscular dystrophy.
About Facioscapulohumeral Muscular Dystrophy (FSHD)
An estimated 1 in every 8,000 people has facioscapulohumeral muscular dystrophy, a rare genetic disorder that causes skeletal muscle weakness and wasting. It often manifests in the face, shoulders, upper arms, but may affect other muscles such as the legs and core. The FSHD Society suggests that 20% of people with FSHD will require a wheelchair by age 50. Symptoms often begin in teenage years with muscle weakness and atrophy; these tend to affect one side of the body more than the other. Additional symptoms and characteristics may include:
- Chronic fatigue
- Moderate-to-severe pain
- Lordosis, kyphosis, or scoliosis (abnormal spinal curvature)
- Shoulder blades that “wing” out
- Foot drop
- Hearing loss
- Eyes that don’t close fully when sleeping
A multi-team approach is usually key to managing FSHD. If you are searching for resources on care, you can check out this helpful guide from the FSHD Society.
