Status:
ENROLLING_BY_INVITATION
Research for Individualized Therapeutics in Rare Genetic Disease
Lead Sponsor:
Mayo Clinic
Conditions:
Rare Genetic Disease
Undiagnosed Diseases
Eligibility:
All Genders
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 diseas...
Eligibility Criteria
Inclusion
- 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.
- Or-
- 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).
Exclusion
Key Trial Info
Start Date :
November 24 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
November 1 2026
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT05236595
Start Date
November 24 2021
End Date
November 1 2026
Last Update
February 21 2025
Active Locations (3)
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1
Mayo Clinic in Arizona
Scottsdale, Arizona, United States, 85259
2
Mayo Clinic Florida
Jacksonville, Florida, United States, 32224
3
Mayo Clinic Rochester
Minneota, Minnesota, United States, 55905