Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

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.

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Key information

Conditions

Myopathy Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

18 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

About 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Sponsors and collaborators

Lead sponsor

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

Nih

Registry information

Important dates

Study start: 2012
Primary completion: 2021
Study completion: 2021
First posted: Mar 8, 2012
Registry last updated: Mar 4, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed