Clinical trials on Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic muscle disorder characterized by the progressive weakening and loss of skeletal muscles. It primarily affects the muscles of the face, shoulders, and upper arms, with symptoms typically beginning in adolescence or early adulthood. FSHD is caused by genetic mutations that lead to the inappropriate expression of the DUX4 gene in muscle cells, causing muscle damage and weakening. Complications of Facioscapulohumeral Muscular Dystrophy include:
  • Muscle Weakness and Wasting: Progresses from the face and shoulders down to the lower body, impacting mobility and daily activities.
  • Facial Muscle Weakness: Can affect the ability to smile, blink, and express emotions.
  • Scapular Wingling: Due to weakness in the shoulder muscles, the shoulder blades protrude outward abnormally.
  • Hearing Loss: Some individuals may experience sensorineural hearing impairment.
  • Retinal Vascular Changes: Though typically not affecting vision, abnormalities in the blood vessels of the retina can be detected during eye examinations.
  • Respiratory Weakness: In advanced stages, weakness of the respiratory muscles can lead to difficulties in breathing, especially during sleep.
  • Pain and Fatigue: Common due to muscle strain and weakness.
Currently available therapies for Facioscapulohumeral Muscular Dystrophy include:
  • Physical Therapy: Aims to maintain mobility and flexibility, manage pain, and prevent joint stiffness.
  • Occupational Therapy: Helps individuals adapt to their limitations and maintain independence in daily activities.
  • Pain Management: Includes both pharmacologic treatments and physical interventions to manage muscle pain and discomfort.
  • Orthoses and Mobility Aids: Braces, wheelchairs, or other assistive devices are often necessary to support weakened muscles and maintain mobility.
  • Respiratory Support: Monitoring and assistance, such as nocturnal ventilatory support, might be required in cases where respiratory muscles are affected.
Prognosis of Facioscapulohumeral Muscular Dystrophy: The prognosis for individuals with FSHD varies widely. While the rate of muscle deterioration can differ significantly among individuals, many maintain a good quality of life and continue with many of their daily activities for many years after diagnosis. The condition is very rarely life-threatening, and most individuals with FSHD have a normal life expectancy. However, the progression of muscle weakness can lead to increased disability over time. Regular follow-up with healthcare providers is crucial to manage symptoms effectively and adapt lifestyle and treatments as needed.
  • CT-EU-00112473

    Study on AOC 1020 for Facioscapulohumeral Muscular Dystrophy Treatment

    This study is aimed at exploring the safety, tolerability, and potential effectiveness of a novel treatment known as AOC 1020 for adults affected by Facioscapulohumeral Muscular Dystrophy (FSHD), covering both FSHD Type 1 and FSHD Type 2.

    The structure of the trial is randomized, double-blind, placebo-controlled, ensuring that participants are randomly allocated to receive either the AOC 1020 treatment or a placebo (a substance without therapeutic effect, serving as a control in the testing of new drugs) via an intravenous (IV) infusion. The objective is to keep both participants and study staff unaware of which treatment is being administered to maintain impartiality.

    The study consists of three stages. In Part A, appropriate doses of the drug are determined by administering single and multiple doses. Part B examines how the body responds to increasing doses of the drug. In Part C, participants receive different doses of the drug in parallel. The entire study lasts 12 months – 9 months is the treatment period, and then there is a 3-month observation period.

    After the conclusion of the active treatment and follow-up, participants are presented with the opportunity to enter a planned open-label extension, which allows continued access to the treatment being investigated. Those opting out of the extension are subjected to a 6-month safety follow-up period.

    The primary concern of the study is the monitoring of the incidence of treatment-emergent adverse events throughout the duration of the study, up to Day 365, to ensure the safety and well-being of all participants.

    • AOC 1020
  • Exploring the effects of RO7204239 on Muscular Dystrophy

    The introduction of a clinical trial focused on a new treatment option for individuals with Facioscapulohumeral Muscular Dystrophy (FSHD) marks a significant step forward in medical research. The study aims to evaluate the effectiveness of RO7204239, a humanized monoclonal antibody that targets human latent myostatin, in improving the lives of those affected by FSHD.

    Participants are randomly assigned to receive either the study medication, RO7204239, or a placebo, with neither participants nor the study team aware of which treatment is being administered. The medication is given subcutaneously (under the skin) every 4 weeks.

    A crucial focus of the study is assessing the impact of RO7204239 on the muscle volume of the quadriceps femoris, the front thigh muscles, through magnetic resonance imaging (MRI) after 52 weeks of treatment. The trial also prioritizes participant safety and well-being, with close monitoring for any adverse events throughout its duration, which may extend up to 2.5 years.

    • RO7204239- new potential medication for spinal muscular atrophy