DementiaNCT02014246
Genetic Characterization of Movement Disorders and Dementias
An observational study of Dementia and Movement Disorder, run by National Institute on Aging (NIA) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 120 yearsHealthy volunteers can take part
- Conditions the study is for
- Dementia, Movement Disorder
- How many people
- 12,000 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Jul 2003to 31 Dec 2059
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 120 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Participants with confirmed or suspected movement disorder or dementia diagnosis and their affected and unaffected family members will be potential candidates for the study, well as unrelated, healthy individuals (known as control samples. Where there is no logical upper limit, we plan to enroll 12,000 study subjects (10,000 patients, 1,000 asymptomatic family members, 1,000 neurological normal controls) for this study.
Who may be able to join
- 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 18 and above
- Able to provide consent or, in the case of subjects without consent capacity, have a legally authorized representative to provide consent
- Able to understand and participate in study procedures or for those without consent capacity, able to participate in study procedures AND has a legally authorized representative that understands the study procedures and can consent on their behalf.
Show all 17Show fewer
- 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 18 and above
- Able 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
- Ages 18 and above
- Able to provide consent
- Able to understand and participate in study procedures
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institute of Aging, Clinical Research Unit
Baltimore, Maryland, 21224
NIA Studies Recruitment, 410-350-3941, niastudiesrecruitment@mail.nih.gov
About this study
Official title: The Genetic Characterization of Movement Disorders and Dementias
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.
Read more
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
Read the 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, and/or saliva samples 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 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 and/or saliva collection 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 or that alter susceptibility/risk for the movement disorder or dementia that the patient has been diagnosed with. These disease-causing variants are often inherited.
- Conditions
- Dementia, Movement Disorder
- Keywords
- Movement Disorders, Polymorphisms, DNA, Lymphoblastoid Cell Lines, Natural History
- Medical subject headings
- Dementia, Movement Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Participants with confirmed or suspected movement disorder or dementia diagnosis and their affected and unaffected family members will be potential candidates for the study, well as unrelated, healthy individuals (known as control samples. | |
| 2 | We plan to enroll 12,000 study subjects (10,000 patients, 1,000 asymptomatic family members, 1,000 neurological normal controls) for this study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Finding genetic cause of disease
Causative for the movement disorder or dementia that the patient has been diagnosed with.
Measured: Identification of pathogenic genetic variants
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Dec 2013 (estimated)
- Study start14 Jul 2003
- Primary completion31 Dec 2059 (estimated)
- Study completion31 Dec 2059
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DementiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 12,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Institute on Aging (NIA)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Bryan J Traynor, M.D., Principal investigator, National Institute on Aging (NIA)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02014246
- Sponsor's protocol ID
- 999903329
- Other IDs
- 03-AG-N329
- Status last verified
- 28 Sep 2026
- First submitted
- 12 Dec 2013
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: The NIA IRP is discussing the plan to make IPD available. A final decision has not been made.
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Genetic Characterization of Movement Disorders and Dementias
- ClinicalTrials.gov ID
- NCT02014246
- Acronym / sponsor ID
- 999903329
- Conditions
- Dementia, Movement Disorder
- Keywords
- Movement Disorders, Polymorphisms, DNA, Lymphoblastoid Cell Lines, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 12,000 participants (estimated)
- Lead sponsor
- National Institute on Aging (NIA)US National Institutes of Health
- Study start
- 14 Jul 2003 (actual)
- Primary completion
- 31 Dec 2059 (estimated)
- Study completion
- 31 Dec 2059
- First posted
- 18 Dec 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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, and/or saliva samples 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 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 and/or saliva collection 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 or that alter susceptibility/risk for the movement disorder or dementia that the patient has been diagnosed with. These disease-causing variants are often inherited.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Participants with confirmed or suspected movement disorder or dementia diagnosis and their affected and unaffected family members will be potential candidates for the study, well as unrelated, healthy individuals (known as control samples. |
| 2 | – | –We plan to enroll 12,000 study subjects (10,000 patients, 1,000 asymptomatic family members, 1,000 neurological normal controls) for this study |
Who may qualify
- Ages
- 18 to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Participants with confirmed or suspected movement disorder or dementia diagnosis and their affected and unaffected family members will be potential candidates for the study, well as unrelated, healthy individuals (known as control samples. Where there is no logical upper limit, we plan to enroll 12,000 study subjects (10,000 patients, 1,000 asymptomatic family members, 1,000 neurological normal controls) for this study.
Key inclusion criteria (17 listed)
- 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 18 and above
- Able to provide consent or, in the case of subjects without consent capacity, have a legally authorized representative to provide consent
- Able to understand and participate in study procedures or for those without consent capacity, able to participate in study procedures AND has a legally authorized representative that understands the study procedures and can consent on their behalf.
Key exclusion criteria (6 listed)
- -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
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Finding genetic cause of disease
Time frame: Identification of pathogenic genetic variants
Causative for the movement disorder or dementia that the patient has been diagnosed with.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Individual participant dataSharing planned: Undecided. The NIA IRP is discussing the plan to make IPD available. A final decision has not been made.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Bryan J Traynor, M.D. principal investigator
National Institute on Aging (NIA)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dementia and Movement Disorder, run by National Institute on Aging (NIA) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 17 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bryan J Traynor, M.D. ((301) 451-7606, traynorb@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Finding genetic cause of disease (time frame: Identification of pathogenic genetic variants). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.