Research for Individualized Therapeutics in Rare Genetic Disease
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- Mayo Clinic
- 入组人数
- 50
- 试验地点
- 3
- 主要终点
- Future IND applications
研究概览
简要总结
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Has Mayo Clinic or other medical health system ID, or another unique identifier.
- •Able to provide informed consent.
- •Individual must have evidence of a genetic disorder as determined by a provider or genetic counselor with causative or likely causative genetic variants identified by molecular testing.
- •Genetic variants must be hypothesized to be targetable using antisense oligonucleotide drugs (such as: knockdown gain of function alterations, increase protein production for reduced function alterations, or modulate mRNA splicing to correct abnormal splicing, promote normal splicing, or return reading frame to an out-of-frame transcript to restore function, etc.) based on current acceptable understanding of ASO mechanisms of action and tissue/organ targeting efficiency.
- •Biological family member of an enrolled individual.
- •Would be able to travel to a Mayo Clinic site for ongoing treatment should a therapeutic be developed.
- •Treatment at the individual's current disease state would likely provide benefit based on current clinical data and understanding of the progression of the disease.
- •Biological family member of an enrolled individual
- •Able to provide informed consent or has a LAR available to provide informed consent
排除标准
- •Individuals who have situations that would limit compliance with the study requirements.
- •Institutionalized (i.e. Federal Medical Prison).
结局指标
主要结局
Future IND applications
时间窗: 5 years
To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes.
Determine natural history and clinical baseline
时间窗: 5 years
To determine the natural history and clinical baseline of patient's disease status. This will be used to determine efficacy when treated with experimental ASO and/or other drug.
Publish findings
时间窗: 5 years
To publish and/or share findings to improve patient specific ASO and/or other drug development and increase the number of therapeutic options for individuals with rare genetic disease.
Collection of biospecimens
时间窗: 5 years
Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens
Enrollment of study participants
时间窗: 5 years
To recruit and enroll participants with a confirmed rare genetic disease whose genetic variants may be targetable by an ASO and/or other drug.
Partnered research with external entities
时间窗: 5 years
To engage in partnered research with external entities (foundations, academia, and drug companies) to facilitate the ASO and/or other drug development and testing.
Determine individualized therapeutic efficacy
时间窗: 5 years
To determine clinical efficacy of treatment with experimental ASO and/or other drug.
次要结局
未报告次要终点
研究者
Margot A. Cousin
Principal Investigator
Mayo Clinic