What this study is
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.
What's being tested
- Genetic test evaluation
Intervention · OTHER
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.
Study details
- Sponsor
- Mayo Clinic
- Conditions
- Undiagnosed Disease · Rare Diseases
- Enrolling
- 5,000 people
- Starts
- 2020-11-20
- Est. completion
- 2026-11
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers AcceptedYou may qualify if
- 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
You can't join if
- Individuals who have situations that would limit compliance with the study requirements
- Institutionalized (i.e. Federal Medical Prison)
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (3)
3 openMayo Clinic in Arizona
Scottsdale, Arizona, United States
Mayo Clinic in Florida
Jacksonville, Florida, United States
Mayo Clinic in Rochester
Rochester, Minnesota, United States
Study team
Sponsor
Mayo Clinic
Study ID 19-003389
Principal investigator
Filippo Pinto e Vairo, MD, PhD
Mayo Clinic
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.