Genetic Frontotemporal Dementia Initiative for Neurodevelopment
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Brain development as measured by structural and functional Magnetic Resonance Imaging
研究概览
简要总结
This is an international multi-centre cohort study of first and second degree family members of individuals who carry Frontotemporal Dementia (FTD) mutations in MAPT, GRN or C9ORF72 repeat expansions for youths between the ages 9-17.
详细描述
GENFI-NeuroDev will study genetic FTD and its associated disorders (including Motor Neurone Disease (MND)/Amyotrophic Lateral Sclerosis(ALS)) in members of families with a known mutation in GRN or MAPT or an expansion in C9orf72. Participants with at-risk members of families (first-degree and second-degree relatives of known genetic mutation carriers). All GENFI-NeuroDev participants will be assessed longitudinally with a set of clinical, neuropsychiatric, cognitive, imaging and biosample protocols. Parents or guardians of potential GENFI NeuroDev participants are all aware of the autosomal dominant genetic nature of FTD in their family prior to being approached for potential participation in this study.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 7 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Written informed consent must be obtained and documented (from the participant and their substitute decision maker). This can be obtained in person or remotely.
- •Youths between the ages of 9 and 16 inclusive at time of enrollment, followed until age
- •Youths must have a 1st or 2nd degree biological relative who has participated (past or present) in the Genetic Frontotemporal Dementia Initiative (GENFI) study or with genetic FTD (i.e. a known mutation in biological parent or grandparent).
- •Parent(s)/guardian deem appropriate to participate.
- •Must have a study partner who can participate as required in the protocol (provide corroborative information). Study partner must have regular contact with the participant and must be parent/guardian of this participant.
- •Must have age-appropriate awareness that FTD runs in their family as determined by local PI.
排除标准
- •Current structural brain abnormality affecting cognition or behaviour not thought to be possibly related to genetic FTD that would prevent completion of study assessments (such as brain tumor, stroke, hydrocephalus).
- •Other concerns that participation in the study may not be in the best interest of the youth or parent, as raised by the participant's parent/guardian/primary care provider, local site PI or psychologist.
- •Lack of study partner.
- •For MRI: meeting any MRI incompatible criteria. Note: Participants may opt to decline MRI scans and complete the other measures.
结局指标
主要结局
Brain development as measured by structural and functional Magnetic Resonance Imaging
时间窗: Through study completion, an average of 2 years
次要结局
未报告次要终点
研究者
Dr. Elizabeth Finger
Director of Research, Dept. of Clinical Neurological Sciences
Western University