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.
592 studies on the registry are indexed under Rare Diseases; 125 are open to participants now.
This study's planned enrollment of 10 is below the median of 133 across 208 observational studies indexed under Rare Diseases.
Browse Rare Diseases studies →Scripps Translational Science Institute is the lead sponsor of 53 studies on the registry; 13 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with idiopathic diseases, referred by their physician.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
The record gives a start of Sep 2011, a primary completion of Dec 2025 and a completion of Dec 2030. It does not say whether these dates are actual or estimated.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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Scripps Translational Science Institute