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Genetic and Family Studies of Inherited Muscle Diseases

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: March 4, 2008
Last verified: March 2002

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.

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

Study Type: Observational
Official Title: Genetic and Family Studies of Inherited Muscle Diseases

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Study Start Date: May 1993
Estimated Study Completion Date: March 2002
Detailed Description:
This laboratory has defined several mutations in muscle diseases which mimic idiopathic inflammatory myopathy, (IIM, polymyositis or dermatomyositis), in particular, phosphofructokinase (PFK) deficiency (Type VII glycogenosis) and acid maltase (GAA) deficiency (Type II glycogenosis). Some patients with each of these autosomal recessive diseases have been shown to be genetic compounds, with different mutations on the alleles from each parent. In this protocol, we seek permission to receive and perform genetic screening on samples of tissue, blood, or DNA from patients with known metabolic muscle diseases, their family members, patients with undiagnosed muscle diseases, and groups of control subjects. Although we will know the names and histories of the patients, and may choose to admit them under other protocols for further studies, the tests we propose to perform on their DNA are currently only of laboratory interest and we believe that the outcome has no implications for the clinical care of the subjects. We propose to obtain oral consent, as appropriate to take a limited history and to speak to the patient's physician, from those patients and family members we speak to directly. All specimens obtained in family studies of a particular disease (e.g., PFK deficiency or GAA deficiency) will be obtained after written consent and will be tested only for the genes of the particular disease under study. After completion of those tests, the DNA, or products derived from it will be stored only under code so that it may be used as a control sample for other studies.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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.

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Please refer to this study by its identifier: NCT00001331

United States, Maryland
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
  More Information

Publications: Identifier: NCT00001331     History of Changes
Other Study ID Numbers: 930143
Study First Received: November 3, 1999
Last Updated: March 4, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
Acid Maltase
Muscle Diseases
Genetic Muscle Diseases

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Glycogen Storage Disease
Glycogen Storage Disease Type VII
Metabolic Diseases
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
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
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Muscular Dystrophies
Muscular Disorders, Atrophic processed this record on June 26, 2017