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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic test evaluation | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Enrollment of Study Participants | 5,000 participants to be accrued | 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Discovery of Disease Mechanisms and Therapeutic Approaches |
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Inclusion Criteria:
Must meet one of the following:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Filippo Pinto e Vairo, MD, PhD | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic in Arizona | Scottsdale | Arizona | 85259 | United States | ||
| Mayo Clinic in Florida |
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| Label | URL |
|---|---|
| Mayo Clinic Clinical Trials | View source |
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| ID | Term |
|---|---|
| D000080842 | Undiagnosed Diseases |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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Research blood collections kits will attempt to be collected on all active study participants. Other samples including urine, stool, tissue, fibroblasts, CSF, RNA, DNA and saliva may also be collected under the protocol.
To facilitate research projects using the Rare and Undiagnosed Disease Biobank to identify underlying disease mechanisms and potential therapeutic approaches. |
| 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. | 5 years |
| Jacksonville |
| Florida |
| 32224 |
| United States |
| Mayo Clinic in Rochester | Rochester | Minnesota | 55905 | United States |