Research for Individualized Therapeutics in Rare Genetic Disease
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Rare Genetic Disease
- Sponsor
- Mayo Clinic
- Enrollment
- 50
- Locations
- 3
- Primary Endpoint
- Future IND applications
- Status
- Enrolling By Invitation
- Last Updated
- 3 months ago
Overview
Brief Summary
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.
Investigators
Margot A. Cousin
Principal Investigator
Mayo Clinic
Eligibility Criteria
Inclusion Criteria
- •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
Exclusion Criteria
- •Individuals who have situations that would limit compliance with the study requirements.
- •Institutionalized (i.e. Federal Medical Prison).
Outcomes
Primary Outcomes
Future IND applications
Time Frame: 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
Time Frame: 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
Time Frame: 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
Time Frame: 5 years
Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens
Enrollment of study participants
Time Frame: 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
Time Frame: 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
Time Frame: 5 years
To determine clinical efficacy of treatment with experimental ASO and/or other drug.