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Not yet recruiting NCT07714161

The Mayo Clinic Rare and Undiagnosed Disease Hackathon

— Observational Undiagnosed Diseases Genetic Diseases Rare Diseases

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Undiagnosed Diseases, Genetic Diseases, Rare Diseases. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Primary outcome measures

  • Feasibility of establishing a biospecimen and data repository [Time frame: 1 year]

Eligibility criteria

Inclusion criteria

  • 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.

Exclusion criteria

  • 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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • Mayo Clinic — Rochester

Identifiers

NCT: NCT07714161 · 26-007494

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗