Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 18 - 80 |
| Updated: | 3/20/2019 |
| Start Date: | February 1, 2012 |
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.
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.
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.
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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