Rare Diseases, Undiagnosed Disease
Conditions
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.
Interventions
OTHERGenetic 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.
Sponsors
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Enrollment of Study Participants | 5 years | 5,000 participants to be accrued |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
Countries
United States
Outcome results
None listed