Investigations Into ISCU 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.
|Official Title:||Investigations Into ISCU Myopathy|
|Study Start Date:||January 2012|
In 2008, NIH investigators collaborated to find a mutation in the human gene, ISCU, which was identified as the cause of a rare myopathy that affected about 25 patients in Sweden. This protocol is intended to allow for the collection and analysis of clinical specimens and medical information from several research subjects who previously participated in studies that led to identification of the disease gene.
|Contact: Tracey A Rouault, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Tracey A Rouault, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|