Study of Muscle Abnormalities in Patients With Specific Genetic Mutations
Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Dec 9, 2002
Trial Information
Current as of May 09, 2025
Completed
Keywords
ClinConnect Summary
Mutations of the fast alpha-tropomyosin gene cause hypertrophic cardiomyopathy (HCM), and are also expressed in skeletal muscle. However, the skeletal phenotype is undetermined. We have identified three families in which HCM is caused by an alpha-tropomyosin mutation. Several family members of one of these kindreds have also inherited a distinct skeletal myopathy called oculopharyngeal muscular dystrophy (OPMD) which is caused by mutations of the poly(A) binding protein-2 gene (PABP2). The pathologic hallmark of this disease is unique nuclear filament inclusions in skeletal muscle fibers. I...
Gender
ALL
Eligibility criteria
- • Patients will be of either gender, aged 10-80 years old, in whom alpha-tropomyosin and PABP2 genotypes have been determined under protocols 87-H-0057 and 98-H-0100.
- • No bleeding diathesis.
- • Negative urine test for pregnancy.
- • No skin infection at site of biopsy.
About National Heart, Lung, And Blood Institute (Nhlbi)
The National Heart, Lung, and Blood Institute (NHLBI) is a leading component of the National Institutes of Health (NIH), dedicated to advancing research and clinical trials focused on cardiovascular, pulmonary, and hematologic diseases. With a mission to improve public health through innovative research, the NHLBI supports a wide range of studies aimed at understanding, preventing, and treating heart and lung conditions. By collaborating with academic institutions, healthcare providers, and patient communities, the NHLBI strives to translate scientific discoveries into effective clinical practices, ultimately enhancing the quality of life for individuals affected by these critical health issues.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Bethesda, Maryland, United States
Patients applied
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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