Research for Individualized Therapeutics in Rare Genetic Disease
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Rare genetic disease individualized drug development screening candidate Patients with targetable disease-causing genetic alterations will be evaluated on a case by case basis. The research study will utilize biospecimens to determine if an individualized therapeutic may be developed as a possible treatment option. If an individualized therapeutic drug can be developed, a future IND FDA application (n=1) will be filed. |
Other: Individualized drug matching per genetic disease
Patient phenotype and samples will be evaluated for individualized therapeutic drug development
|
Outcome Measures
Primary Outcome Measures
- Enrollment of study participants [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.
- Collection of biospecimens [5 years]
Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens
- Partnered research with external entities [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.
- Future IND applications [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 [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.
- Determine individualized therapeutic efficacy [5 years]
To determine clinical efficacy of treatment with experimental ASO and/or other drug.
- Publish findings [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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Has Mayo Clinic or other medical health system ID, or another unique identifier.
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Able to provide informed consent.
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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.
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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.
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Biological family member of an enrolled individual.
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Would be able to travel to a Mayo Clinic site for ongoing treatment should a therapeutic be developed.
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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.
-Or-
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Biological family member of an enrolled individual
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Able to provide informed consent or has a LAR available to provide informed consent
Exclusion Criteria
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Individuals who have situations that would limit compliance with the study requirements.
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Institutionalized (i.e. Federal Medical Prison).
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Mayo Clinic in Arizona | Scottsdale | Arizona | United States | 85259 |
| 2 | Mayo Clinic Florida | Jacksonville | Florida | United States | 32224 |
| 3 | Mayo Clinic Rochester | Minnesota | Minnesota | United States | 55905 |
Sponsors and Collaborators
- Mayo Clinic
Investigators
- Principal Investigator: Brendan C Lanpher, MD, Mayo Clinic
Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
None provided.- 21-006562