Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

This study is ongoing, but not recruiting participants.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: March 6, 2012
Last updated: August 19, 2014
Last verified: July 2014


- 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 Type: Observational
Official Title: Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 2
Study Start Date: January 2012
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.


Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • 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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01547767

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Principal Investigator: Tracey A Rouault, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)