An observational study in Rare Disease and Idiopathic Disease, sponsored by Scripps Translational Science Institute. Enrolling by invitation at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-01-16.
Sponsored by Scripps Translational Science Institute · Observational
This research is being done to learn more about possible genetic causes of currently undiagnosed conditions, and to find out how the development of new technologies, such as DNA sequencing, can increase knowledge of the role genetic variants play in disorders and possibly how genetic variants may help de-termine the best treatment options.
The recent development of new technologies has increased our ability to understand how genetic mutations are associated with disease. Using these technologies to find the genetic variants responsible for rare diseases is a rapidly growing field and has already begun to transform the way conditions with unknown causes are diagnosed and treated.
Hypothesis: Identification of new genomic variants associated with idiopathic diseases and/or diseases of unknown etiology will advance medical knowledge about rare and common diseases.
Patients with idiopathic diseases, referred by their physician.
Exclusion Criteria:
Study population is limited to individuals with a rare severe illness, and/or their family members.
Genomic sequencing of tissue
Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology.
Time frame: Day 1
Identification of modifying genomic alterations
Identification of modifying genomic alterations that may indirectly exacerbate the condition.
Time frame: Day 1
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Scripps Translational Science Institute