NCT02014246 · National Institute on Aging (NIA)
Genetic Characterization of Movement Disorders and Dementias
What this study is about
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.
View original scientific description
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.
Primary outcome measures
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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 18 and above
- 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 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. 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
- 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.
Where
- Baltimore, Maryland
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Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 8, 2026 · Source of record for eligibility and locations