NIH Clinical Research Studies

Protocol Number: 01-N-0187

Active Accrual, Protocols Recruiting New Patients

Title:
Phenotype/Genotype Correlations in Inherited Myopathies
Number:
01-N-0187
Summary:
The Neuromuscular Diseases Section (NDS) is conducting research on certain inherited myopathies and neuropathies, disorders that lead to disability and sometimes death. NDS, along with other groups, has identified some disease-causing genes. The National Institutes of Health Clinical Center proposes new research to identify additional hereditary neuromuscular diseases and conduct genetic studies in order to localize, clone, and characterize the diseases.

An expected 50 patients with known or suspected inherited myopathy or neuropathy and their families will be recruited for this study. If travel to the Clinical Center is impossible, investigators may come to them to do the tests. Ten to twenty cubic centimeters of blood will be drawn for DNA extraction and genotyping. Some abnormal movements of muscle atrophy will be documented by videotaping. If necessary, diagnostic laboratory and radiographic studies will be done to confirm diagnosis. Because the diseases are hereditary, blood may also be drawn from family members. The family will be counseled and the participants invited back annually to investigate the progression of the disease.

Each participant will be evaluated by a history and initial neurological exam. Up to another 20 mL of blood will be drawn for routine blood studies. Other medical care procedures may include a chest x-ray, EKG and echocardiogram, CT (computed tomography) or MRI (magnetic resonance imaging) scan, pulmonary function tests, and physical therapy assessment. Possible research procedures may include MR spectroscopy, nerve conduction study, electromyography, muscle or nerve biopsy, and lumbar puncture.

The researchers have decided not to inform the family if nonpaternity or adoption is discovered by the DNA genotyping. Also, because a carrier of the disease gene may not necessarily develop the disease, family members will not be informed if they are carriers.

Sponsoring Institute:
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
INCLUSION CRITERIA:

Patients of all ages with known or suspected inherited myopathies or neuropathies or neuropathies and their families will be considered as potential candidates for the study.

Pregnant women will be included.

Family members of studied patients who express interest in participating will be also accepted.

Willingness and legal ability to give and sign informed study consent.

Willingness to travel to the Clinical Center for evaluation if necessary.

Willingness to submit tissue for testing this may include muscle, nerve and peripheral blood.

EXCLUSION CRITERIA:

People with no known or suspected inherited myopathies or neuropathies.

Special Instructions: Currently Not Provided
Keywords:
DNA
Hereditary Myopathies
Intermediate Filaments
Cardiomyopathies
Genetic Testing
Recruitment Keywords:
Myopathy
Hereditary Myopathies
Inherited Neuromuscular Disorder
Conditions:
Neuromuscular Disease
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:
A nonsense mutation in the human phosphofructokinase muscle-subunit gene of three Ashkenazi Jewish patients with glycogenosis type VII associates with retention of intron 10 in one of the isolated cDNA species

Late onset muscle weakness in partial phosphofructokinase deficiency: A unique myopathy with vacuoles, abnormal mitochondria and absence of the common exon 5/intron 5 junction point mutation

Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy

Active Accrual, Protocols Recruiting New Patients

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