Research for Individualized Therapeutics in Rare Genetic Disease

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.

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).