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Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01547767
First Posted: March 8, 2012
Last Update Posted: July 2, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
  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
Study Design: Observational Model: Case-Only
Time Perspective: Other
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) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):

Enrollment: 2
Study Start Date: January 30, 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.
  Eligibility

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years to 80 Years   (Adult, Senior)
Sexes Eligible for Study:   All
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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01547767


Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
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:
Publications:
Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT01547767     History of Changes
Other Study ID Numbers: 120062
12-CH-0062
First Submitted: March 6, 2012
First Posted: March 8, 2012
Last Update Posted: July 2, 2017
Last Verified: June 9, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Metabolism
Muscle
Mutation
ISCU Myopathy
Myopathy

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