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Antioxidant Therapy in RYR1-Related Congenital Myopathy

NCT02362425 · Status: COMPLETED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 63

Last updated 2019-12-24

Study results available
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Summary

Background:

\- Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common non-dystrophic 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. Adult participants may 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 videotaped during procedures.
* They may have a muscle biopsy.
* Six months later, visit 2 will repeat visit 1. Participants will start taking the study drug dissolved in water or placebo three times a day for 6 months.
* Participants will stay at NIH for 2 days after starting the study drug.
* Participants will be contacted by phone during the study to monitor side effects
* Six months after starting the study drug, study visit 3 will repeat some or all of visit 1.

Conditions

Interventions

DRUG

N-acetylcysteine

DRUG

Placebo

Sponsors & Collaborators

  • National Institute of Nursing Research (NINR)

    lead NIH

Principal Investigators

  • Suzanne J Wingate, C.R.N.P. · National Institute of Nursing Research (NINR)

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
TRIPLE
Model
PARALLEL

Eligibility

Min Age
7 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-02-12
Primary Completion
2018-05-30
Completion
2018-05-30
FDA Drug
Yes

Countries

  • United States

Study Locations

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Entities

Drugs
Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02362425 on ClinicalTrials.gov