Study 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
Study Status:
Recruiting
Disease:
Amyotrophic Lateral Sclerosis (ALS) , Familial ALS , Sporadic ALS , Healthy Volunteer , Healthy Volunteer with a Family History of ALS , Ataxia, Dystonia, Parkinson's Disease, Corticobasal Degeneration, Multiple System Atrophy, Alzheimer's Disease, Lewy Body Dementia, Parkinson Disease-Dementia, Dentatorubral-pallidoluysian Atrophy
Study Type:
Observational
Type of Intervention:
N/A
Intervention Name:
N/A
Placebo:
N/A
Phase:
N/A
Study Chair(s)/Principal Investigator(s):
Bryan J Traynor, M.D., National Institute on Aging (NIA)
Clinicaltrials.gov ID:
Neals Affiliated?
No
Coordinating Center Contact Information
National Institute of Aging
Cynthia D Crews / email hidden; JavaScript is required / 301-451-3826
United States
Full Study Summary:
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.
Study Sponsor:
National Institute on Aging (NIA)
Participant Duration:
Participation is generally a single visit
Estimated Enrollment:
12000
Estimated Study Start Date:
02 / 12 / 2003
Estimated Study Completion Date:
12 / 31 / 2025
Posting Last Modified Date:
01 / 27 / 2030
Date Study Added to neals.org:
01 / 11 / 2018
Accepts healthy volunteers:
Yes
Minimum Age:
18
Can participants use Riluzole?
Yes
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.
National Institute of Aging, Clinical Research Unit
NIA Studies Recruitment / 410-350-3941 / email hidden; JavaScript is required
Baltimore, Maryland
21224
United States