Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

NCT01547767 | Completed

• 2 other identifiers: 12006212-CH-0062
• Study Type: observational
• Target: 2
• Locations: 1 country
• Sites: 1

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.

Conditions

Myopathy

Keywords

Metabolism; Muscle; Mutation; ISCU Myopathy; Myopathy

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Subjects will be eligible for this study if they have ISCU myopathy or carry a mutation in ISCU.
• will be the only patients included.

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 18304497 BACKGROUND

• 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(5):361-80. doi: 10.1136/jnnp.27.5.361. No abstract available.

  PMID: 14213465 BACKGROUND

• 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. doi: 10.1172/JCI115422.

  PMID: 1918374 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Muscular Diseases

Condition Hierarchy (Ancestors)

Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Officials

• Tracey A Rouault, M.D.

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 6, 2012
• First Posted: March 8, 2012
• Study Start: February 1, 2012
• Primary Completion: March 3, 2021
• Study Completion: March 3, 2021
• Last Updated: March 4, 2021

Record last verified: 2021-03

Locations

US (1)