Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Completed
Conditions studied: Myopathy
In brief
Background: \- A mutation in a gene known as ISCU was found to be the cause of a rare myopathy that affects the muscles. Researchers collected clinical samples from people with this myopathy. More research is being done to develop a therapy for this disease. Researchers are asking for permission to study the samples already collected. Objectives: \- To allow researchers to use clinical samples collected to study new treatments for ISCU myopathy. Eligibility: \- People with ISCU myopathy who have provided clinical samples for study. Design: * Participants will allow researchers to study clinical samples already collected. Blood, urine, muscle, and cell samples may be used. Medical records and photographs may also be studied. * Treatment will not be provided as part of this study.
Key facts
- Study ID
- NCT01547767
- Run by
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- People needed
- 2
- Starts
- 2012-02-01
- Expected to finish
- 2021-03-03
- Last updated by the study team
- 2021-03-04
Who can join
Age: 18 and older, up to 80. Sex: any. Healthy volunteers: not accepted.
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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