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

Full record on ClinicalTrials.gov

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