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Home > "P" Clinical Trials Conditions > Phenotype/Genotype Correlations in Movement Disorders  Phenotype/Genotype Correlations in Movement Disorders
Phenotype/Genotype Correlations in Movement Disorders
For Condition: Movement Disorder
Status: Recruiting
Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) ,
Synopsis: The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms responsible for a specific disorder.
Details: The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms responsible for a specific disorder.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Patients of all ages and their families with known or suspected inherited neurological disorders will be considered as potential candidates for this study. In particular, families with more than one affected relative will be sought. Movement disorders to be studied include but are not limited to Parkinson's disease, spinocerebellar ataxias, hereditary tremor and myoclonus. Pregnant women will be included except for tests involving radiation or anesthesia. Referrals will be accepted from geneticists, genetic counselors, neurologists and other health care providers and family members who express interest in participating when sufficient clinical and/or laboratory diagnostic evidence is available. Medical records that support the diagnosis will be requested and evaluated by the principal investigator and his associates. Those identified to meet diagnostic criteria, will be invited to the NIH for evaluation. Some family members may choose not to travel to the NIH for the clinical component of this project, but may choose to participate in the registry and tissue analysis aspects of this research project. Appropriateness for inclusion in the protocol will be considered after medical record review and discussion with the referring health care provider. The general health and well being of each potential participant must be sufficient to allow for travel to the NIH, blood drawing, and as indicated, pulmonary and cardiac evaluations, physical therapy assessments, and other routine diagnostic procedures. Patients will be enrolled without regard to race, creed, color, religion, or national origin. EXCLUSION CRITERIA: Pregnant women will be included except for tests involving radiation or anesthesia.
Total Enrollment: 300
Location and Contact Information:
National Institute of Neurological Disorders and Stroke (NINDS) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 010206; 01-N-0206
Study Start Date: July 6, 2001
Record last reviewed: September 30, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00018889
Other Movement Disorder Studies:
1. Magnetic Stimulation of the Human Nervous System
2. Study of Brain Control of Movement
3. Magnetic Resonance Imaging Studies of Motor and Thought Processes
4. Treatment of Cortical Myoclonus with Repetitive Transcranial Magnetic Stimulation
5. Human Movement Database
Related Studies:
Other Movement Disorder Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Phenotype/Genotype Correlations in Movement Disorders
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