Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT01547767
First received: March 6, 2012
Last updated: March 14, 2014
Last verified: September 2013

March 6, 2012
March 14, 2014
January 2012
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Complete list of historical versions of study NCT01547767 on ClinicalTrials.gov Archive Site
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Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

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.

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.

Observational
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Myopathy
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
4
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  • 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.

Both
18 Years to 80 Years
No
Contact: Tracey A Rouault, M.D. (301) 496-7060 trou@helix.nih.gov
United States
 
NCT01547767
120062, 12-CH-0062
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Principal Investigator: Tracey A Rouault, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institutes of Health Clinical Center (CC)
September 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP