Rare Genetic Disease, Undiagnosed Diseases
Conditions
Brief summary
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
OTHERIndividualized drug matching per genetic disease
Patient phenotype and samples will be evaluated for individualized therapeutic drug development
Sponsors
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| Determine individualized therapeutic efficacy | 5 years | To determine clinical efficacy of treatment 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. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORMargot A Cousin, Ph.D.
Mayo Clinic
Outcome results
None listed