RECRUITING

Phenotype/Genotype Correlations in Movement Disorders

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Phenotype/Genotype Correlations in Movement Disorders

Quick Facts

Study Start:2001-10-22
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00018889

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:2 Years to 100 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Individuals with suspected movement disorders
  2. * Family members of movement disorders patients
  3. * 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)
  4. * If unable to give informed consent, ability to give assent (for children or adults without consent capacity)
  5. * NIH Employees can participate in this study if they meet eligibility.
  1. * Pregnant women
  2. * Children less than 2 years of age
  3. * Employees of the Parkinson's Disease Clinic, NINDS
  4. * 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.
  5. * Subject is uncomfortable in small closed spaces (have claustrophobia) so that they would feel uncomfortable in the MRI machine.
  6. * Unable to lie comfortably on back for up to 1 hour
  7. * Under 12 years of age

Contacts and Locations

Study Contact

Konjit Yirgashewa
CONTACT
(301) 594-5277
konjit.yirgashewa@nih.gov
Debra J Ehrlich, M.D.
CONTACT
(301) 443-7888
debra.ehrlich@nih.gov

Principal Investigator

Debra J Ehrlich, M.D.
PRINCIPAL_INVESTIGATOR
National Institute of Neurological Disorders and Stroke (NINDS)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)

  • Debra J Ehrlich, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Neurological Disorders and Stroke (NINDS)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2001-10-22
Study Completion DateN/A

Study Record Updates

Study Start Date2001-10-22
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

  • Movement Disorder