Research for Individualized Therapeutics in Rare Genetic Disease

Launched by MAYO CLINIC · Feb 9, 2022

Keywords

ClinConnect Summary

This Mayo Clinic study is looking at people with rare genetic diseases that currently don’t have a good treatment. Researchers want to see if a personalized drug—designed to target each person’s specific genetic change (a type of therapy called an antisense oligonucleotide, or ASO)—could be developed for them. The study will follow participants for about five years, collect health information, and obtain biospecimens (like blood or skin cells) to see if a tailored drug might be possible. If a workable personalized treatment is found, the team may apply to the FDA to test it for that person.

Who may be eligible? The study is open to children and adults with a diagnosed rare genetic disorder for which there isn’t an adequate treatment, and who have a genetic variant that researchers think could be targeted by a personalized therapy. Participants must be able to provide informed consent (or have a consent ancestor for them) and, if a treatment is developed, travel to a Mayo Clinic site. A biological family member can also participate. This is an observational study (no treatment required now) and enrollment is by invitation at Mayo Clinic sites in Scottsdale, AZ; Jacksonville, FL; and Rochester, MN, with an anticipated duration of about five years. If progress allows, an IND filing with the FDA could occur for an individualized therapy in the future.

Gender

ALL

Eligibility criteria

• 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).