Research for Individualized Therapeutics in Rare Genetic Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-11-24

Study Completion Date

2026-11-30

Brief Summary

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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.

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Detailed Description

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Conditions

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Rare Genetic Disease Undiagnosed Diseases

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Individualized drug matching per genetic disease

Intervention Type OTHER

Patient phenotype and samples will be evaluated for individualized therapeutic drug development

Interventions

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Individualized drug matching per genetic disease

Patient phenotype and samples will be evaluated for individualized therapeutic drug development

Intervention Type OTHER

Eligibility Criteria

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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