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Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

NCT01547767 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 2

Last updated 2021-03-04

No results posted yet for this study

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.

Conditions

  • Myopathy

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • Tracey A Rouault, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-02-01
Primary Completion
2021-03-03
Completion
2021-03-03

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01547767 on ClinicalTrials.gov