Enrolling by invitation NCT05236595
Research for Individualized Therapeutics in Rare Genetic Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Individualized drug matching per genetic disease.
- Who it may be relevant to
- Registry conditions: Rare Genetic Disease, Undiagnosed Diseases. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Other Individualized drug matching per genetic disease
Patient phenotype and samples will be evaluated for individualized therapeutic drug development
Primary outcome measures
- Enrollment of study participants [Time frame: 5 years]
- Collection of biospecimens [Time frame: 5 years]
- Partnered research with external entities [Time frame: 5 years]
- Future IND applications [Time frame: 5 years]
- Determine natural history and clinical baseline [Time frame: 5 years]
- Determine individualized therapeutic efficacy [Time frame: 5 years]
- Publish findings [Time frame: 5 years]
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).
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 3 centers
- Mayo Clinic in Arizona — Scottsdale
- Mayo Clinic Florida — Jacksonville
- Mayo Clinic Rochester — Minneota
Identifiers
NCT: NCT05236595 · 21-006562