Phenotype/Genotype Correlations in Movement Disorders

Status: Recruiting
Location: See location...
Study Type: Observational
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....

Eligibility
Participation Requirements
Sex: All
Minimum Age: 2
Maximum Age: 100
Healthy Volunteers: f
View:

• 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.

Locations
United States
Maryland
National Institutes of Health Clinical Center
RECRUITING
Bethesda
Contact Information
Primary
Konjit Yirgashewa
konjit.yirgashewa@nih.gov
(301) 594-5277
Backup
Debra J Ehrlich, M.D.
debra.ehrlich@nih.gov
(301) 443-7888
Time Frame
Start Date: 2001-10-22
Participants
Target number of participants: 2500
Treatments
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
Authors
Mark Hallett
Sponsors
Leads: National Institute of Neurological Disorders and Stroke (NINDS)

This content was sourced from clinicaltrials.gov