Research for Individualized Therapeutics in Rare Genetic Disease

Recruitment & Eligibility

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).

Exclusion Criteria

Not provided

Study & Design

Arm && Interventions

Group	Intervention	Description
Rare genetic disease individualized drug development screening candidate	Individualized drug matching per genetic disease	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.

Primary Outcome Measures

Name	Time	Method
Determine individualized therapeutic efficacy	5 years	To determine clinical efficacy of treatment with experimental ASO and/or other drug.
Future IND applications	5 years	To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes.
Determine natural history and clinical baseline	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.
Publish findings	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.
Enrollment of study participants	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.
Collection of biospecimens	5 years	Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens
Partnered research with external entities	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.

Secondary Outcome Measures

Name	Time	Method

Recruitment & Eligibility