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Investigations Into ISCU Myopathy

This study is currently recruiting participants.
Verified September 2012 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: May 1, 2013
Last verified: September 2012
History of Changes
  Purpose

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.

Condition
Myopathy

Study Type: Observational
Official Title: Investigations Into ISCU Myopathy

Resource links provided by NLM:

MedlinePlus related topics: Muscle Disorders
U.S. FDA Resources

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

Estimated Enrollment: 4
Study Start Date: January 2012
Detailed Description:

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.

  Eligibility

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

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01547767

Contacts
Contact: Tracey A Rouault, M.D. (301) 496-7060 trou@helix.nih.gov

Locations
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     prpl@mail.cc.nih.gov    
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
Principal Investigator: Tracey A Rouault, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

Additional Information:
NIH Clinical Center Detailed Web Page  This link exits the ClinicalTrials.gov site

Publications:

ClinicalTrials.gov Identifier: NCT01547767     History of Changes
Other Study ID Numbers: 120062, 12-CH-0062
Study First Received: March 6, 2012
Last Updated: May 1, 2013
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Metabolism
Muscle
Mutation
ISCU Myopathy
Myopathy

Additional relevant MeSH terms:
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases

ClinicalTrials.gov processed this record on May 19, 2013