Research for Individualized Therapeutics in Rare Genetic Disease

Mayo Clinic

Status: Invitation-only

Conditions: Undiagnosed Diseases; Rare Genetic Disease

Treatments: Other: Individualized drug matching per genetic disease

Study type: Observational

Funder types: Other

Identifiers

NCT05236595

21-006562

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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).

Trial design

50 participants in 1 patient group

Rare genetic disease individualized drug development screening candidate

Description:

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.

Treatment:

Other: Individualized drug matching per genetic disease