Identifying genetic links in movement disorders
Phenotype/Genotype Correlations in Movement Disorders
This study is trying to find out if there are genetic links in families with movement disorders to help understand their symptoms and identify people at risk for these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2500 (estimated) |
| Ages | 2 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00018889 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify families with inherited movement disorders and evaluate their clinical manifestations using advanced technologies. It focuses on performing phenotypic and genotypic characterizations of patients and their family members to establish accurate diagnoses and investigate the underlying molecular mechanisms. The study will also explore peripheral biomarkers to better predict individuals at risk for specific neurological diseases. Participants may also be screened for eligibility in related movement disorder protocols.
Who should consider this trial
Good fit: Ideal candidates include individuals with suspected movement disorders and their family members.
Not a fit: Patients with movement disorders of unknown origin who do not have family members to participate may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and understanding of genetic factors in movement disorders, potentially guiding more effective treatments.
How similar studies have performed: Other studies have shown success in identifying genetic factors in movement disorders, making this approach promising yet still expanding on existing knowledge.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: * Individuals with suspected movement disorders * Family members of movement disorders patients * Ability to give informed consent or have a legally authorized representative able to give consent (for adults without consent capacity) or parent/guardian able to provide informed consent (for a child) * If unable to give informed consent, ability to give assent (for children or adults without consent capacity) * NIH Employees can participate in this study if they meet eligibility. EXCLUSION CRITERIA: * Pregnant women * Children less than 2 years of age * Employees of the Parkinson's Disease Clinic, NINDS Exclusion criteria for MRI * Presence of metal in subject s body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if subject was a welder or metal worker, since small metal fragments in the eye may be present. * Subject is uncomfortable in small closed spaces (have claustrophobia) so that they would feel uncomfortable in the MRI machine. * Unable to lie comfortably on back for up to 1 hour * Under 12 years of age There is no general exclusion for NIH employees.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Debra J Ehrlich, M.D. — National Institute of Neurological Disorders and Stroke (NINDS)
- Study coordinator: Konjit Yirgashewa
- Email: konjit.yirgashewa@nih.gov
- Phone: (301) 594-5277
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.