Recruiting

Genetic Characterization

Sponsor:

National Institute on Aging (NIA)

Code:

NCT02014246

Conditions

Dementia

Movement Disorder

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Accepted

Study Details

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.

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

Conditions

Dementia

Movement Disorder

Study ID

NCT02014246

Start date

Jul 14, 2003

Status verified date

Aug 17, 2026

Completion date

Dec 31, 2059

Primary completion date

Dec 31, 2059

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

12000 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Primary outcome measure

  • Finding genetic cause of disease [ Time Frame: Identification of pathogenic genetic variants ]

Central Contacts and Locations

Central contacts

Locations

National Institute of Aging, Clinical Research Unit

Recruiting

Baltimore, Maryland, United States, 21224

Contacts

More Information

Sponsor

National Institute on Aging (NIA)

Last update posted

Aug 31, 2026

Last verified

Aug 17, 2026

Keywords

  • Movement Disorders
  • Polymorphisms
  • DNA
  • Lymphoblastoid Cell Lines
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute on Aging (NIA) on 2026-08-31.