Recruiting

Observational Study

Sponsor:

National Institute of Neurological Disorders and Stroke (NINDS)

Code:

NCT00018889

Conditions

Movement Disorder

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Movement Disorder

Study ID

NCT00018889

Start date

Oct 22, 2001

Status verified date

Aug 28, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

2500 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients 1

Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlations.

Patients 2

Patients with disease of unknown or incomplete genetic characterization.

Subjects

Subjects older than 2 years old with movement disorders and their family members

Primary outcome measure

  • The primary outcome measure is the phenotypic and genotypic characterizations of patients and family members with movement disorders. [ Time Frame: 10 Years ]

Central Contacts and Locations

Central contacts

Konjit Yirgashewa

(301) 594-5277konjit.yirgashewa@nih.gov

Debra J Ehrlich, M.D.

(301) 443-7888debra.ehrlich@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Last update posted

Sep 1, 2026

Last verified

Aug 28, 2026

Keywords

  • Clinical Evaluation
  • Genetic Study
  • Essential Tremor
  • Familial Myoclonus
  • Hereditary Ataxia
  • Natural History
  • Movement Disorder
  • Inherited Movement Disorder

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Neurological Disorders and Stroke (NINDS) on 2026-09-01.