Research for Individualized Therapeutics in Rare Genetic Disease

Undiagnosed Diseases Clinical Trial

Official title:

Research for Individualized Therapeutics in Rare Genetic Disease

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT05236595
• Other study ID #: 21-006562
• Status: Enrolling by invitation
• Start date: November 24, 2021
• Est. completion date: November 2026

Study information

• Verified date: February 2024
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• 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).

Related Conditions & MeSH terms

• Genetic Diseases, Inborn
• Rare Genetic Disease
• Undiagnosed Diseases

Intervention

Other:
• Individualized drug matching per genetic disease
Patient phenotype and samples will be evaluated for individualized therapeutic drug development

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

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

External Links

•   Mayo Clinic Clinical Trials