Clinical Trial: Antioxidant Therapy in RYR1-Related Congenital Myopathy

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional



Official Title: Antioxidant Therapy in RYR1-Related Congenital Myopathy

Brief Summary:

Background:

- Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common muscle diseases that people are born with in the U.S. They affect development, muscles, and walking. Researchers want to test a new drug to help people with these diseases.

Objectives:

- To see if the drug N-acetylcysteine decreases muscle damage in people with RYR1-RM. To see if it improves their exercise tolerance.

Eligibility:

- People age 7 and older with a confirmed genetic diagnosis of RYR1 or a clinical diagnosis of RYR1 and a family member with a confirmed genetic diagnosis.

Design:

  • Participants will be screened with a checklist of criteria. They will have a muscle biopsy. A needle will remove a tiny piece of muscle in the lower leg.
  • Study visits will take several days.
  • Visit 1:
  • Medical history
  • Physical exam
  • Blood, urine, and saliva tests
  • Questions about symptoms and quality of life
  • Heart, lung, and walking tests
  • Muscle Oxygenation Capacity Test. A blood pressure cuff around the thigh will be tightened for up to 10 minutes.
  • Biodex testing, stretching the leg against resistance
  • Muscle ultrasounds. A probe will be moved over the skin.
  • Participants may be photographed or video