Rare and Undiagnosed Disease Research Biorepository

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

5000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-11-20

Study Completion Date

2026-11-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative of symptoms. Researchers are creating a biobank (library) of samples and information to learn more about treating rare and undiagnosed diseases.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Research for Individualized Therapeutics in Rare Genetic Disease

NCT05236595

Rare Genetic Disease Undiagnosed Diseases

ENROLLING_BY_INVITATION

Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases

NCT03491280

Rare Diseases Genetic Predisposition

UNKNOWN

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

NCT04399694

Genetic Disease Inborn Errors of Metabolism Glycogen Storage Disease +2 more

COMPLETED

Finding Genes for Rare Diseases

NCT02724995

Rare Diseases

WITHDRAWN

UW Undiagnosed Genetic Diseases Program

NCT04586075

Rare Diseases Genetic Disease Undiagnosed Disease

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Undiagnosed Disease Rare Diseases

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Genetic test evaluation

Patients with rare and undiagnosed disease and their family members may be evaluated on a case by case basis. The research study may perform multi-omics testing to provide a diagnosis or to provide biomarker discovery.

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Has Mayo Clinic or other medical health system ID, or another unique identifier
* Able to provide informed consent

Must meet one of the following:

* Individual must have evidence of a rare disease or a suspected genetic disorder as determined by a provider or genetic counselor
* Biological family member of an enrolled individual