Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

Myopathy Clinical Trial

Official title:

Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01547767
• Other study ID #: 120062
• Secondary ID: 12-CH-0062
• Status: Completed
• Start date: February 1, 2012
• Est. completion date: March 3, 2021

Study information

• Verified date: March 2021
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2
• Est. completion date: March 3, 2021
• Est. primary completion date: March 3, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

• 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.

Related Conditions & MeSH terms

• Muscular Diseases
• Myopathy

Locations

Country	Name	City	State
United States	National Institutes of Health Clinical Center, 9000 Rockville Pike	Bethesda	Maryland

Sponsors (1)

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

Country where clinical trial is conducted

United States, 

References & Publications (3)

Haller RG, Henriksson KG, Jorfeldt L, Hultman E, Wibom R, Sahlin K, Areskog NH, Gunder M, Ayyad K, Blomqvist CG, et al. Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest. 1991 Oct;88(4):1197-206. — View Citation

LARSSON LE, LINDERHOLM H, MUELLER R, RINGQVIST T, SOERNAES R. HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS. J Neurol Neurosurg Psychiatry. 1964 Oct;27:361-80. — View Citation

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14. — View Citation

External Links

•   NIH Clinical Center Detailed Web Page