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Clinical Trial Details — Status: Enrolling by invitation

Administrative data

NCT number NCT05236595
Other study ID # 21-006562
Secondary ID
Status Enrolling by invitation
Phase
First received
Last updated
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
Health authority
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).

Study Design


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
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Active, not recruiting NCT06261944 - A Pivotal Clinical Investigation Confirming the Safety and Accuracy of the Glyconics-DS in Assessment of Glycated Nail Keratin in Individuals With Unknown Diabetes Status and Performance Evaluation of the Glyconics SW Package N/A

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