Undiagnosed DiseasePRaUDNCT04703179
Rare and Undiagnosed Disease Research Biorepository
An observational study of Undiagnosed Disease and Rare Diseases, run by Mayo Clinic at 3 sites in United States.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Undiagnosed Disease, Rare Diseases
- What is being tested?
- Genetic test evaluation
- How many people
- 5,000 participants
- Where
- 3 sitesUnited States
- Study dates
- 20 Nov 2020to Nov 2026
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Subjects with any rare and undiagnosed disease. Both affected and unaffected family members may also be invited for participation as part of the genetic evaluation.
Who may be able to join
- 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
Who cannot join
- Individuals who have situations that would limit compliance with the study requirements
- Institutionalized (i.e. Federal Medical Prison)
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites
Mayo Clinic in Florida
Jacksonville, Florida, 32224
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
Mayo Clinic in Arizona
Scottsdale, Arizona, 85259
About this study
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.
- Conditions
- Undiagnosed Disease, Rare Diseases
- Being tested
- Genetic test evaluation
- Medical subject headings
- Undiagnosed Diseases, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic test evaluationOther
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Enrollment of Study Participants
5,000 participants to be accrued
Measured: 5 years
Secondary outcomes (3)
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.
Measured: 5 years
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.
Measured: 5 years
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.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jan 2021
- Study start20 Nov 2020
- Primary completionNov 2026 (estimated)
- Study completionNov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Undiagnosed DiseaseStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 5,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Filippo Pinto e Vairo, Mayo Clinic
- Investigators
- Filippo Pinto e Vairo, MD, PhD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04703179
- Sponsor's protocol ID
- 19-003389
- Acronym
- PRaUD
- Status last verified
- Dec 2025
- First submitted
- 7 Jan 2021
- Last updated
- 15 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rare and Undiagnosed Disease Research Biorepository
- ClinicalTrials.gov ID
- NCT04703179
- Acronym / sponsor ID
- PRaUD / 19-003389
- Conditions
- Undiagnosed Disease, Rare Diseases
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 20 Nov 2020 (actual)
- Primary completion
- Nov 2026 (estimated)
- Study completion
- Nov 2026 (estimated)
- First posted
- 11 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with any rare and undiagnosed disease. Both affected and unaffected family members may also be invited for participation as part of the genetic evaluation.
Key inclusion criteria (5 listed)
- Has Mayo Clinic or other medical health system ID, or another unique identifier
- Able to provide informed consent
- 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
Key exclusion criteria (2 listed)
- Individuals who have situations that would limit compliance with the study requirements
- Institutionalized (i.e. Federal Medical Prison)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic test evaluationPatients 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. | Other | – |
Primary outcome
Enrollment of Study Participants
Time frame: 5 years
5,000 participants to be accrued
3 secondary outcomes
Body-of-Knowledge
Time frame: 5 years
Discovery of Disease Mechanisms and Therapeutic Approaches
Time frame: 5 years
Diagnostic Yield
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Dec 2025.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Filippo Pinto e Vairo, MD, PhD principal investigator
Mayo Clinic
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Undiagnosed Disease and Rare Diseases, run by Mayo Clinic at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 15 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Enrollment of Study Participants (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Dec 2025.