Genetic Characterization of Movement Disorders and Dementias
| Status: | Recruiting |
|---|---|
| Conditions: | Alzheimer Disease, Other Indications, Parkinsons Disease, Neurology, Neurology, Neurology, Orthopedic, Hematology |
| Therapuetic Areas: | Hematology, Neurology, Orthopedics / Podiatry, Other |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 1/30/2019 |
| Start Date: | February 12, 2003 |
| End Date: | December 31, 2019 |
| Contact: | Cynthia D Crews |
| Email: | cc100h@nih.gov |
| Phone: | (301) 451-3826 |
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
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
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 an 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 for the movement disorder or dementia that the patient has been
diagnosed with. These disease-causing variants are often inherited.
The secondary outcome measure of this study is the identification of genetic variants that
alter susceptibility/risk for the movement disorder or dementia that the patient has been
diagnosed with. These genetic risk factors are associated with disease that can be apparently
sporadic in nature.
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 an 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 for the movement disorder or dementia that the patient has been
diagnosed with. These disease-causing variants are often inherited.
The secondary outcome measure of this study is the identification of genetic variants that
alter susceptibility/risk for the movement disorder or dementia that the patient has been
diagnosed with. These genetic risk factors are associated with disease that can be apparently
sporadic in nature.
- 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.
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