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Genetic Characterization of Movement Disorders and Dementias

This study is currently recruiting participants.
Verified September 26, 2017 by National Institutes of Health Clinical Center (CC) ( National Institute on Aging (NIA) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT02014246
First Posted: December 18, 2013
Last Update Posted: September 29, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute on Aging (NIA) )
  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. On the other hand, dementia is a condition of declining mental abilities, especially memory. Dementia can occur at any age but becomes more frequent with age. Researchers want to study the genes of families with a history of movement disorders or dementia. They hope to find a genetic cause of these 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 or dementias in general. This study will perform genetic testing to identify the genetic causes of movement disorders and dementia. 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 and dementias.

Objectives:

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

Eligibility:

Adults and children with a movement disorder or dementia, 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


Condition
Ataxia Dystonia Parkinson's Disease Amyotrophic Lateral Sclerosis Corticobasal Degeneration Multiple System Atrophy Alzheimer's Disease Lewy Body Dementia Parkinson Disease-Dementia Dentatorubral-pallidoluysian Atrophy Creutzfeldt-Jakob Disease and Fatal Familial Insomnia Fragile X-associated Tremor/Ataxia Syndrome Krabbe's Disease Niemann-Pick Disease, Type C Neuronal Ceroid Lipofuscinosis

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Other
Official Title: Genetic Characterization of Movement Disorders and Dementias

Resource links provided by NLM:


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

Primary Outcome Measures:
  • Identify and characterize genetic contributions to etiology for movement disorders, such as dystonia, Parkinson's disease, and dementias, such as Alzheimer's disease, Lewy Body Dementia, frontotemporal dementia. [ Time Frame: Ongoing ]

Estimated Enrollment: 12000
Study Start Date: February 12, 2003
Estimated Study Completion Date: December 31, 2017
Estimated Primary Completion Date: December 31, 2017 (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 or dementia, 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 or dementia, 1,000 asymptomatic persons who are family members/related to individuals with a diagnosis of movement disorder or dementia, 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 or dementia 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 or dementia that the patient has been diagnosed with. These genetic risk factors are associated with disease that can be apparently sporadic in nature.

  Eligibility

Information from the National Library of Medicine

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, Learn About Clinical Studies.


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

For Patients:

  • Diagnosis of a movement disorder or dementia 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 or dementia 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, or cognitive impairment, 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 or dementia 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 or cognitive impairment, 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 dementia, or family member with a movement disorder or dementia
  • 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 or dementia, 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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
First Submitted: December 12, 2013
First Posted: December 18, 2013
Last Update Posted: September 29, 2017
Last Verified: September 26, 2017

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

Additional relevant MeSH terms:
Ataxia
Cerebellar Ataxia
Parkinson Disease
Alzheimer Disease
Dementia
Atrophy
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Dystonia
Movement Disorders
Multiple System Atrophy
Shy-Drager Syndrome
Pick Disease of the Brain
Aphasia, Primary Progressive
Frontotemporal Dementia
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Neuronal Ceroid-Lipofuscinoses
Lewy Body Disease
Leukodystrophy, Globoid Cell
Creutzfeldt-Jakob Syndrome
Insomnia, Fatal Familial
Myoclonic Epilepsies, Progressive
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurodegenerative Diseases