Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Public ClinicalTrials.gov record NCT01547767. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT01547767
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Enrollment
- 2 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 18 Years to 80 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Feb 1, 2012 (Actual)
- Primary completion
- Mar 3, 2021 (Actual)
- Completion
- Mar 3, 2021 (Actual)
- Last update posted
- Mar 4, 2021
2012 – 2021
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01547767, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Mar 4, 2021 · Synced Oct 18, 2026
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Open the official record
The complete public registry record, listed eligibility criteria, and available contact information for NCT01547767 live on ClinicalTrials.gov.