Genetic analysis of movement disorders and dementia

Genetic Characterization of Movement Disorders and Dementias

This study is testing the genetic links between movement disorders and dementia by looking at people with these conditions, their family members, and healthy individuals to see if certain genes play a role in developing these issues.

Quick facts

• Study type: Observational
• Enrollment: 12000 (estimated)
• Ages: 18 Years to 120 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Baltimore, Maryland)
• Trial ID: NCT02014246 on ClinicalTrials.gov

What this trial studies

This study aims to investigate the genetic factors associated with movement disorders and dementia by analyzing individuals diagnosed with these conditions, their unaffected family members, and healthy controls. Participants will undergo a medical examination and provide biospecimens such as blood or saliva for DNA analysis. The goal is to identify genetic mutations that may contribute to the development of these disorders, enhancing understanding and potential treatment options. The study will involve up to 10,000 affected individuals and 2,000 controls, with visits conducted at the NIH Clinical Center or local facilities.

Who should consider this trial

Good fit: Ideal candidates include adults aged 18 and older with a clinical diagnosis of a movement disorder or dementia.

Not a fit: Patients without a diagnosis of a movement disorder or dementia, or those who are unable to provide consent, may not benefit from this study.

Why it matters

Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with movement disorders and dementia.

How similar studies have performed: Other studies have shown promise in identifying genetic causes of similar conditions, suggesting that this approach could yield valuable insights.

Eligibility criteria

* 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 this trial is running

Baltimore, Maryland

• National Institute of Aging, Clinical Research Unit — Baltimore, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Bryan J Traynor, M.D. — National Institute on Aging (NIA)
• Study coordinator: Bryan J Traynor, M.D.

Conditions Dementia; Movement Disorder; Movement Disorders; Polymorphisms; DNA; Lymphoblastoid Cell Lines; Natural History