UCSF Center for Genome Surgery Biobank and Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 10,000
- 试验地点
- 2
- 主要终点
- Improve our understanding of how specific mutations lead to dysfunction and cause disease
研究概览
简要总结
Gene editing approaches (including but not limited to: CRISPR, LNP, AAV, RNAi etc.) for the medical specialty of interventional genomics require (1) determination of the clinical relevance of genomic variants and (2) systematic evaluation of the 'editability' of those variants. Here, we seek to use in silico and in vitro analyses of genomic, cellular, and clinical data/specimens to (1) identify novel pathogenic variants underlying diseases and (2) examine the specificity and efficacy of various gene editing components across the entire human genomic landscape.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •For initial screening and discussion at huddle call:
- •Male and female individuals of any age, including pregnant women and their fetuses at any gestational age.
- •Self-referred or referred through their provider to the UCSF Center for Genome surgery/Interventional Genomics Board for a condition that is genetic or suspected to be genetic in origin.
- •UCSF patient OR consents to allow for their case to be presented at the IGB huddle.
- •For enrollment into registry or biobanking:
- •Any above participant that the IGB agrees would be appropriate for enrollment in the registry and biobanking portion of this protocol OR Any male or female family member of any age of someone enrolled in the registry and biobanking portion of this protocol.
- •Provides informed consent for participation in the registry and biobanking portion of the protocol.
排除标准
- •For initial screening and discussion at huddle call:
- •Individuals who have previously been discussed by the IGB and determined to not be appropriate to move forward into the registry and biobanking portion of the protocol, unless new information related to their case may change the initial assessment.
- •Individuals who are not impacted by a genetic or suspected genetic condition.
- •For enrollment into registry or biobanking:
- •Any participant that the IGB agrees is inappropriate for enrollment in the registry and biobanking portion of this protocol.
研究组 & 干预措施
Center for Genome Surgery Case Series Discussion
Enrollment in Registry and Biobank
结局指标
主要结局
Improve our understanding of how specific mutations lead to dysfunction and cause disease
时间窗: Up to 25 years
Empirically assess the edibility of individual participant genomic variants in silico and in patient-derived cells for the purpose of bespoke genomic therapies.
时间窗: Up to 25 years
次要结局
未报告次要终点