PRaUD: Rare and Undiagnosed Disease Research Biorepository

• Sponsor: Mayo Clinic (Other)
• Overall Status: Enrolling by invitation
• CT.gov ID: NCT04703179
• Collaborator: (none)
• Enrollment: 5,000
• Locations: 3
• Anticipated Duration (Months): 72
• Patients Per Site: 1666.7
• Patients Per Site Per Month: 23.2

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Undiagnosed Disease; Rare Diseases	Other: Genetic test evaluation

Study Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 5000 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Rare and Undiagnosed Disease Research Biorepository
• Actual Study Start Date: Nov 20, 2020
• Anticipated Primary Completion Date: Nov 20, 2025
• Anticipated Study Completion Date: Nov 20, 2026

Outcome Measures

Primary Outcome Measures

1. Enrollment of Study Participants [5 years]

   5,000 participants to be accrued

Secondary Outcome Measures

1. Body-of-Knowledge [5 years]

   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.

2. Discovery of Disease Mechanisms and Therapeutic Approaches [5 years]

   To facilitate research projects using the Rare and Undiagnosed Disease Biobank to identify underlying disease mechanisms and potential therapeutic approaches.

3. Diagnostic Yield [5 years]

   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.

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

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)

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Mayo Clinic in Arizona	Scottsdale	Arizona	United States	85259
2	Mayo Clinic in Florida	Jacksonville	Florida	United States	32224
3	Mayo Clinic in Rochester	Rochester	Minnesota	United States	55905

Sponsors and Collaborators

• Mayo Clinic

Investigators

• Principal Investigator: Filippo Pinto e Vairo, MD, PhD, Mayo Clinic

Study Documents (Full-Text)

None provided.

More Information

Additional Information:

• Mayo Clinic Clinical Trials

Publications

None provided.

• Responsible Party: Filippo Pinto e Vairo, Principal Investigator, Mayo Clinic
• ClinicalTrials.gov Identifier: NCT04703179
• Other Study ID Numbers: 19-003389
• First Posted: Jan 11, 2021
• Last Update Posted: Jan 12, 2022
• Last Verified: Jan 1, 2022

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Rare Diseases; Undiagnosed Diseases

Study Results

No Results Posted as of Jan 12, 2022