Rare and Undiagnosed Disease Research Biorepository

Rare Diseases Clinical Trial

— PRaUD  

Official title:

Rare and Undiagnosed Disease Research Biorepository

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT04703179
• Other study ID #: 19-003389
• Status: Enrolling by invitation
• Start date: November 20, 2020
• Est. completion date: November 2025

Study information

• Verified date: March 2024
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 5000
• Est. completion date: November 2025
• Est. primary completion date: November 2025
• 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

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

Exclusion Criteria:

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

Related Conditions & MeSH terms

• Rare Diseases
• Undiagnosed Disease
• Undiagnosed Diseases

Intervention

Other:
• 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.

Locations

Country	Name	City	State
United States	Mayo Clinic in Florida	Jacksonville	Florida
United States	Mayo Clinic in Rochester	Rochester	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	5,000 participants to be accrued	5 years
Secondary	Body-of-Knowledge	To prospectively follow the cohort of Rare and Undiagnosed Disease Biorepository participants to ascertain new health outcomes via medical records and patient contact, update risk factor data, and collect additional biologic specimens.	5 years
Secondary	Discovery of Disease Mechanisms and Therapeutic Approaches	To facilitate research projects using the Rare and Undiagnosed Disease Biobank to identify underlying disease mechanisms and potential therapeutic approaches.	5 years
Secondary	Diagnostic Yield	To change the rate of diagnosis and level of care for patients with rare and undiagnosed diseases through collaborations with clinical investigators and researchers at Mayo Clinic and globally.	5 years