Undiagnosed Diseases Clinical Trial
Official title:
Research for Individualized Therapeutics in Rare Genetic Disease
Verified date | February 2024 |
Source | Mayo Clinic |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational [Patient Registry] |
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.
Status | Enrolling by invitation |
Enrollment | 50 |
Est. completion date | November 2026 |
Est. primary completion date | November 2026 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | N/A and older |
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). |
Country | Name | City | State |
---|---|---|---|
United States | Mayo Clinic Florida | Jacksonville | Florida |
United States | Mayo Clinic Rochester | Minnesota | Minnesota |
United States | Mayo Clinic in Arizona | Scottsdale | Arizona |
Lead Sponsor | Collaborator |
---|---|
Mayo Clinic |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Enrollment of study participants | To recruit and enroll participants with a confirmed rare genetic disease whose genetic variants may be targetable by an ASO and/or other drug. | 5 years | |
Primary | Collection of biospecimens | Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens | 5 years | |
Primary | Partnered research with external entities | To engage in partnered research with external entities (foundations, academia, and drug companies) to facilitate the ASO and/or other drug development and testing. | 5 years | |
Primary | Future IND applications | To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes. | 5 years | |
Primary | Determine natural history and clinical baseline | 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. | 5 years | |
Primary | Determine individualized therapeutic efficacy | To determine clinical efficacy of treatment with experimental ASO and/or other drug. | 5 years | |
Primary | Publish findings | 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. | 5 years |
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