Search / Trial NCT00001331

Genetic and Family Studies of Inherited Muscle Diseases

Launched by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES (NIAMS) · Nov 3, 1999

Trial Information

Current as of December 14, 2024

Completed

Keywords

Myopathy Phosphofructokinase Acid Maltase Pompe Muscle Diseases Genetic Muscle Diseases

ClinConnect Summary

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 mu...

Gender

ALL

Eligibility criteria

  • 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.

About National Institute Of Arthritis And Musculoskeletal And Skin Diseases (Niams)

The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) is a pivotal component of the National Institutes of Health (NIH) dedicated to advancing research and knowledge in the fields of arthritis, musculoskeletal disorders, and skin diseases. NIAMS sponsors a wide range of clinical trials aimed at improving the diagnosis, treatment, and prevention of these conditions. By fostering innovative research, collaborating with healthcare professionals, and engaging with patient communities, NIAMS strives to enhance the quality of life for individuals affected by these diseases, while promoting scientific discovery and public health initiatives.

Locations

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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