Research for Individualized Therapeutics in Rare Genetic Disease

NCT05236595 | Enrolling By Invitation

• 1 other identifier: 21-006562
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 3

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.

Conditions

Rare Genetic Disease; Undiagnosed Diseases

Outcome Measures

Primary Outcomes (7)

• 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

• Collection of biospecimens

  Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens

  5 years

• 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

• Future IND applications

  To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes.

  5 years

• 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

• Determine individualized therapeutic efficacy

  To determine clinical efficacy of treatment with experimental ASO and/or other drug.

  5 years

• 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

Study Arms (1)

Rare genetic disease individualized drug development screening candidate

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.

Other: Individualized drug matching per genetic disease

Interventions

Individualized drug matching per genetic disease OTHER

Patient phenotype and samples will be evaluated for individualized therapeutic drug development

Rare genetic disease individualized drug development screening candidate

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals who have been diagnosed with a rare genetic disorder for which adequate or curative treatment is not currently available.

You may qualify if:

• 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

You may not qualify if:

• Individuals who have situations that would limit compliance with the study requirements.
• Institutionalized (i.e. Federal Medical Prison).

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (3)

Mayo Clinic in Arizona

Scottsdale, Arizona, 85259, United States

Location

Mayo Clinic Florida

Jacksonville, Florida, 32224, United States

Location

Mayo Clinic Rochester

Minneota, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

Research blood collection kits will attempt to be collected on all active study participants. Other biospecimens including fibroblasts, CSF, saliva, buccal swabs, and tissue may also be collected under the protocol as needed.

MeSH Terms

Conditions

Undiagnosed Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Margot A Cousin, Ph.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 27, 2021
• First Posted: February 11, 2022
• Study Start: November 24, 2021
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: January 20, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)