The Mayo Clinic Rare and Undiagnosed Disease Hackathon

NCT07714161 | Not Yet Recruiting

• 1 other identifier: 26-007494
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases through a structured, multidisciplinary diagnostic program.

Conditions

Undiagnosed Diseases; Genetic Diseases; Rare Diseases

Outcome Measures

Primary Outcomes (1)

• Feasibility of establishing a biospecimen and data repository

  Number of enrolled participants who complete all planned repository workflow steps, including eligibility confirmation, informed consent, biospecimen collection, clinical data abstraction, research data generation, and multidisciplinary Hackathon case review.

  1 year

Study Arms (1)

Rare or Undiagnosed Disease Participants

Mayo Clinic patients receiving or having received care who have rare or undiagnosed conditions, prior non-diagnostic standard genetic testing, and nomination by a Mayo Clinic clinician sponsor followed by study team selection.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients receiving or having received care at Mayo Clinic who have rare or undiagnosed conditions and who are nominated by a Mayo Clinic clinician sponsor and selected by the study team.

You may qualify if:

• Patients receiving or having received care at Mayo Clinic with rare or undiagnosed conditions; of any age (including pediatric); who can provide informed consent or have a legally authorized representative (LAR).
• Patients who have undergone prior standard genetic testing that was non-diagnostic; and who are nominated by a Mayo Clinic clinician sponsor and selected by the Study Team.

You may not qualify if:

• Patients with a confirmed molecular or clinical diagnosis that fully explains their phenotype
• Patients unable to provide consent and without a legally authorized representative (LAR)
• Patients for whom sample collection cannot be coordinated
• Patients enrolled in a clinical trial that precludes ancillary genomic research (evaluated on a case-by-case basis)
• Prisoners will not be included in this study

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Collected biospecimens may include blood for DNA, RNA, plasma, serum, and other analytes; urine; buccal swab; saliva; and additional or alternate specimens for CLIA-certified confirmation when needed. Biospecimens will be coded and stored in secure Mayo Clinic biorepository facilities.

MeSH Terms

Conditions

Undiagnosed Diseases; Genetic Diseases, Inborn; Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Eric Klee, Ph.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mayo Hackathon Team

CONTACT

507-738-7890; DLHackathonCoordinatorTeam@mayo.edu

Study Design

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

Study Record Dates

• First Submitted: July 15, 2026
• First Posted: July 20, 2026
• Study Start: August 1, 2026
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027
• Last Updated: July 20, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)