Ignite Creation Date:
2025-12-25 @ 12:43 AM
Ignite Modification Date:
2025-12-25 @ 10:56 PM
Study NCT ID:
NCT01547767
Status:
COMPLETED
Last Update Posted:
2021-03-04
First Post:
2012-03-06
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Organization:
Study Overview
Official Title:
Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Status:
COMPLETED
Status Verified Date:
2021-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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.
\- 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.
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.
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary ID Infos
| Secondary ID | Type | Domain | Link | View |
|---|---|---|---|---|
| 12-CH-0062 | None | None | View |