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NCT05236595

Research for Individualized Therapeutics in Rare Genetic Disease

Enrolling by Invitation
Not specifiedAll AgesObservational
Mayo Clinic
~50 participants
Updated 2026-01-20 on ClinicalTrials.gov
What's tested:Individualized drug matching per genetic disease

At a glance

Recruiting sites
0 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Enrollment of study participants
Measured over 5 years
+6 more outcomes measured

Conditions

Rare Genetic Disease
Undiagnosed Diseases

Explore related trials

Genetic DisorderUndiagnosed DiseasesGene Variant

Where it's being run

3 sites across 3 states
Arizona1
Florida1
Minnesota1

Study leadership

  • Margot A Cousin, Ph.D. · PRINCIPAL_INVESTIGATOR · Mayo Clinic

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

Individuals who have situations that would limit compliance with the study requirements.
Institutionalized (i.e. Federal Medical Prison).

What this trial measures

  • Enrollment of study participants5 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 biospecimens5 years

    Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens

  • Partnered research with external entities5 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 applications5 years

    To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes.

  • Determine natural history and clinical baseline5 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 efficacy5 years

    To determine clinical efficacy of treatment with experimental ASO and/or other drug.

  • Publish findings5 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.