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Antioxidant Therapy in RYR1-Related Congenital Myopathy (N-Acetylcysteine)

The National Institute of Nursing research (NINR) at the National Institute of Health (NIH) in Bethesda, Maryland, is conducting a research study to determine if a drug that has been approved by the FDA for other indications reduces the severity of some symptoms in people with ryanodine receptor 1-related myopathy (RYR1-RM) 

Purpose:

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.


You may be eligible if you: 

  • are 7 years of age or older (Parents must give permission for minors to participate). 
  • are able to walk. 
  • have a diagnosis of RYR1.
  • have had a muscle biopsy confirming RYR1, or if anyone in your family does.

You may not be eligible if you: 

  • have a history of liver or lung disease.
  • have a history of ulcers, trouble swallowing, or have problems with your esophagus.
  • are pregnant or are planning to become pregnant.
  • are nursing or breastfeeding.

The study involves: 

  • Three outpatient visits to the NIH campus over one year. 
  • After your initial visit, you will be seen twice, 6 months apart. 
  • Each visit will take 4-6 days. 
  • You will be required to take the drug or placebo three times a day for 6 months.
  • Travel and accommodation expenses will be covered for participants.
  • All study-related tests are provided at no cost. 

Location: 
The NIH Clinical Center, America's research hospital, is located on the Metro red line (Medical Center station) in Bethesda, Maryland. 

For more information contact: 
Irene Arveson, BSN, RN 
E-mail:  This e-mail address is being protected from spambots. You need JavaScript enabled to view it
Phone: 301-451-4881
Online: clinicaltrials.gov 
Refer to study 15-NR-0072