Genetic Characterization of Movement Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2015 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute on Aging (NIA) )
ClinicalTrials.gov Identifier:
NCT02014246
First received: December 12, 2013
Last updated: November 17, 2015
Last verified: November 2015
  Purpose

Background:

- There are two basic types of movement disorders. Some cause excessive movement, some cause slowness or lack of movement. Some of these are caused by mutations in genes. Researchers want to study the genes of families with a history of movement disorders. They hope to find a genetic cause of the disorders. This can help them better understand and treat the diseases. This study will not be limited to a particular disorder, but will study all movement disorders in general. This study will perform genetic testing to identify the genetic causes of movement disorders. Today, genetic testing can be done to analyze multiple genes at the same time. This increases the chances of finding the genetic cause of movement disorders.

Objectives:

- To learn more about movement disorders, their causes, and treatments.

Eligibility:

  • Adults and children with a movement disorder and their family members.
  • Healthy volunteers.

Design:

  • Participants will be screened with medical history and blood tests. Some will have physical exam.
  • Participants will give a blood sample by a needle in the arm. This can be done at the clinic, by their own doctor, or at home. Alternatively, a saliva sample may be provided if a blood sample cannot be obtained.
  • Participants can opt to send an extra blood sample to a repository for future study. Genetic test will be done on these samples. The samples will be coded. The key to the code will remain at NIA. Only NIA investigators will have access to the code key. Participants can request to receive results of the tests.
  • Participation is generally a single visit. Participants may be called back for extra visits.

Condition
Ataxia
Dystonia

Study Type: Observational
Official Title: Genetic Characterization of Movement Disorders

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Finding genetic cause of disease [ Time Frame: Ongoing ] [ Designated as safety issue: No ]

Estimated Enrollment: 12000
Study Start Date: February 2003
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Detailed Description:

Objective:

The objective of this study is to ascertain individuals with a clinical diagnosis of a movement disorder, their affected and unaffected family members, and unrelated, healthy individuals (to provide control samples); to characterize their phenotypes; and to identify and further characterize genetic contributions to etiology by collecting blood samples, saliva samples, and/or skin biopsies on these individuals for DNA and induced Pluripotent stem (iPs) cell line preparation.

Study population:

Up to 10,000 persons with a diagnosis of a movement disorder, 1,000 asymptomatic persons who are family members/related to individuals with a diagnosis of movement disorder, and 1,000 unrelated, healthy control individuals.

Design:

This study usually requires one outpatient visit to the NIH Clinical Center. Participant visits may also take place when they are an inpatient at the NIH Clinical Center. Those who are unable to travel to NIH may have study procedures performed at a site near their home, such as hospital facilities, private physician offices, nursing homes, assisted living facilities, local community centers, or participant homes. Participants will undergo medical record review, a physical examination and biospecimen collection including blood draw, saliva collection and/or skin biopsy at the enrollment visit. Additional visits may be scheduled to collect additional phenotype information or to collect additional biospecimens.

Outcome measures:

The primary outcome measure of this study is the identification of pathogenic genetic variants that are causative for the movement disorder that the patient has been diagnosed with. These disease-causing variants are often inherited.

The secondary outcome measure of this study is the identification of genetic variants that alter susceptibility/risk for the movement disorder that the patient has been diagnosed with. These genetic risk factors are associated with disease that can be apparently sporadic in nature.

  Eligibility

Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA

For Patients:

  • Diagnosis of a movement disorder by a neurologist or other qualified professional and accompanied by sufficient clinical and/or laboratory evidence to support the diagnosis
  • Confirmation of a movement disorder by study investigators or a qualified clinician by physical examination and/or review of medical records
  • Ages 2 or older (age 18 or older to participate via mailer kit)
  • Able to provide consent or, in the case of minors, have a legally-authorized representative to provide consent
  • Able to understand and participate in study procedures

For unaffected family members of patients:

  • Unaffected relative of a patient diagnosed with a movement disorder enrolled in this protocol. For these purposes, we define a family member as an individual for which there is a demonstrable relationship with the proband in the pedigree. This is a standard approach used in family-based studies. Furthermore, the related patient (defined as a family member diagnosed with the disease of interest) must be enrolled in the study.
  • Ages 2 or older (age 18 or older to participate via mailer kit)
  • Able to provide consent or, in the case of minors, have a legally-authorized representative to provide consent
  • Able to understand and participate in study procedures

For unrelated healthy control individuals:

  • Be in good general health
  • Have no known movement disorder or family member with a movement disorder
  • Age 18 and above
  • Able to provide consent
  • Able to understand and participate in study procedures

EXCLUSION CRITERIA

For patients:

-An identifiable, non-genetic etiology for the movement disorder, such as a specific environmental exposure, birth injury, metabolic disorder, or brain infection such as encephalitis

For all participants:

  • Clinically significant anemia that would make phlebotomy unsafe, and participant unwilling to provide saliva sample.
  • Clinically significant bleeding that would make phlebotomy unsafe, and participant unwilling to provide saliva sample.
  • Any medical condition that would make phlebotomy unsafe or undesirable, such as a serious medical illness like unstable heart disease, or unstable chronic obstructive pulmonary disease, and participant unwilling to provide saliva sample.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02014246

Contacts
Contact: Cynthia D Crews (301) 451-3826 cc100h@nih.gov
Contact: Bryan J Traynor, M.D. (301) 451-7606 traynorb@mail.nih.gov

Locations
United States, Maryland
National Institute of Aging, Clinical Research Unit Recruiting
Baltimore, Maryland, United States, 21224
Contact: NIA Studies Recruitment    410-350-3941    niastudiesrecruitment@mail.nih.gov   
Sponsors and Collaborators
National Institute on Aging (NIA)
Investigators
Principal Investigator: Bryan J Traynor, M.D. National Institute on Aging (NIA)
  More Information

Responsible Party: National Institute on Aging (NIA)
ClinicalTrials.gov Identifier: NCT02014246     History of Changes
Other Study ID Numbers: 999903329  03-AG-N329 
Study First Received: December 12, 2013
Last Updated: November 17, 2015
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Movement Disorders
Polymorphisms
DNA
Lymphoblast Cell Lines

Additional relevant MeSH terms:
Dystonia
Movement Disorders
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Central Nervous System Diseases

ClinicalTrials.gov processed this record on July 25, 2016