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OpenTrials
Enrolling by Invitation

NCT Number: NCT05236595

Research for Individualized Therapeutics in Rare Genetic Disease

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.

Enrolling by Invitation

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Key information

Conditions

Rare Genetic Disease Disease Attributes Pathologic Processes Pathological Conditions, Signs and Symptoms Undiagnosed Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic in Arizona, Scottsdale, Arizona, United States

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Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

Individualized drug matching per genetic disease

Other

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

Primary outcomes

  1. 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.

  2. 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

  3. 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.

  4. Future IND applications

    Time frame: 5 years

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

  5. 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.

  6. Determine individualized therapeutic efficacy

    Time frame: 5 years

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

  7. 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.

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Important dates

Study start
2021
Primary completion
2026
Study completion
2026
First posted
Feb 11, 2022
Registry last updated
Jan 20, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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