The Genetic Characterization of Movement Disorders and Dementias
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 12,000
- 试验地点
- 1
- 主要终点
- Finding genetic cause of disease
研究概览
简要总结
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
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详细描述
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
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 120 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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.
研究组 & 干预措施
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
结局指标
主要结局
Finding genetic cause of disease
时间窗: Identification of pathogenic genetic variants
Causative for the movement disorder or dementia that the patient has been diagnosed with.
次要结局
未报告次要终点