Genetic Characterization of Movement Disorders and Dementias

Launched by NATIONAL INSTITUTE ON AGING (NIA) · Dec 12, 2013

Keywords

ClinConnect Summary

This clinical trial is studying the genetic causes of movement disorders and dementia, which are conditions that affect movement and mental abilities, respectively. Researchers want to learn more about these disorders by looking at the genes of people who have them, as well as their family members, to help find better ways to understand and treat these conditions. The study is open to adults and children with a movement disorder or dementia, their unaffected family members, and healthy volunteers. Participants will need to provide a blood or saliva sample, and the results of the genetic tests can be shared with them if they wish.

To participate, individuals must be 18 years or older, able to provide consent, and have a confirmed diagnosis of a movement disorder or dementia. Healthy volunteers must be in good health and have no family history of these conditions. The study usually involves a single visit where participants will undergo some screening, including a physical exam and medical history review. If you or someone you know is interested in helping with this important research, it could offer insights that benefit many families dealing with these challenging conditions.

Gender

ALL

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.