|
Protocol Number:
01-N-0187
- 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
If you have:
Search The Studies | Help | Questions | Clinical Center Home | NIH Home
Warren Grant Magnuson Clinical Center (CC) National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/16/2004
|
|