Myopathy
Conditions
Keywords
Metabolism, Muscle, Mutation, ISCU Myopathy, Myopathy
Brief summary
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.
Detailed description
In 2008, NIH investigators collaborated to find a mutation in the human gene, ISCU, which is the official human gene name for a gene involved in assembly of iron sulfur clusters, and is abbreviated from Iron Sulfur Cluster assembly protein, U, 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.
Interventions
None listed
Sponsors
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study design
Observational model
CASE_ONLY
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
* INCLUSION CRITERIA: * Subjects will be eligible for this study if they have ISCU myopathy or carry a mutation in ISCU. No exclusions will be made based on gender or, ethnicity and adults will be the only patients included.
Countries
United States
Outcome results
None listed