Clinical Trial: Genetic Characterization of Movement Disorders and Dementias
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Genetic Characterization of Movement Disorders and Dementias
Brief Summary:
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.
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
Sponsor: National Institute on Aging (NIA)
Current Primary Outcome: 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 ]
Original Primary Outcome: Identify and characterize genetic contributions to etiology for DNA and lymphoblastoid cell line preparation [ Time Frame: 12 years ]
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: December 12, 2013
Date Started: February 12, 2003
Date Completion: December 31, 2017
Last Updated: April 21, 2017
Last Verified: April 11, 2017
