Genetic and Family Studies of Inherited Muscle Diseases

NCT00001331 | Completed

• 2 other identifiers: 93014393-AR-0143
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop. PFK deficiency is a mild, exercise-related illness. The childhood form of GAA deficiency (Pompe disease) affects the heart and liver and is rapidly fatal. The adult form begins in midlife and involves degeneration of skeletal muscles, leading to weakness and muscle wasting. The following groups of individuals may be eligible for this study: Group A: Patients with PFK deficiency, acid maltase deficiency, and relatives who also are affected. Participants in this group will undergo a brief medical and family history, blood sample collection, and possibly a physical examination, review of medical records, and interview with the patient's physician. Group B: Unaffected family members of patients in group A, including both blood relatives and spouses. People in this group may be asked to provide a history and genetic information. A review of medical records, interview with the individual's physician, and blood sample may also be requested. Group C: Control subjects. This group will provide a small blood sample or buccal mucosal sample (tissue sample collected by brushing the inside of the cheek). The samples will be coded and the investigators will not know the participants' identities. DNA from these samples will be analyzed for frequency of gene mutations. Genetic counseling will be arranged for patients, as appropriate.

Conditions

Dermatomyositis; Glycogen Storage Disease Type II; Glycogen Storage Disease Type VII; Myositis; Polymyositis

Keywords

Myopathy; Phosphofructokinase; Acid Maltase; Pompe; Muscle Diseases; Genetic Muscle Diseases

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

Patients known to have PFK deficiency, GAA deficiency or other known genetic muscle diseases and their clinically affected relatives. Clinically unaffected family members of patients with PFK deficiency, GAA deficiency or other known genetic muscle diseases, including both blood relatives and spouses. Control subjects. These will be individuals whose DNA has been gathered and coded by other investigators and provided to us solely for the purpose of population surveys of mutation frequency. Among such controls, may be unaffected individuals of the same racial or geographic origin as those with a particular mutation. If a convenient bank of such anonymous samples is unavailable, we will seek such individuals among those who work at the NIH or their families or friends.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): lead

Study Sites (1)

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Plotz PH, Dalakas M, Leff RL, Love LA, Miller FW, Cronin ME. Current concepts in the idiopathic inflammatory myopathies: polymyositis, dermatomyositis, and related disorders. Ann Intern Med. 1989 Jul 15;111(2):143-57. doi: 10.7326/0003-4819-111-2-143.

  PMID: 2662848 BACKGROUND

• Plotz PH. Not myositis. A series of chance encounters. JAMA. 1992 Oct 21;268(15):2074-7. doi: 10.1001/jama.268.15.2074. No abstract available.

  PMID: 1404746 BACKGROUND

• Raben N, Sherman J, Miller F, Mena H, Plotz P. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J Biol Chem. 1993 Mar 5;268(7):4963-7.

  PMID: 8444874 BACKGROUND

MeSH Terms

Conditions

Dermatomyositis; Glycogen Storage Disease Type II; Glycogen Storage Disease Type VII; Myositis; Polymyositis; Muscular Diseases

Condition Hierarchy (Ancestors)

Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: May 1, 1993
• Study Completion: March 1, 2002
• Last Updated: March 5, 2008

Record last verified: 2002-03

Locations

US (1)