Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
- 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.
- To allow researchers to use clinical samples collected to study new treatments for ISCU myopathy.
- People with ISCU myopathy who have provided clinical samples for study.
- 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.
|Study Design:||Observational Model: Case-Only
Time Perspective: Other
|Official Title:||Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy|
|Study Start Date:||January 30, 2012|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01547767
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Tracey A Rouault, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|