Clinical Trial: Idiopathic Diseases of Man

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational

Official Title: Idiopathic Diseases of Man (IDIOM)

Brief Summary:

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.


Detailed Summary:
Sponsor: Scripps Translational Science Institute

Current Primary Outcome: Genomic sequencing of tissue [ Time Frame: Day 1 ]

Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology.


Original Primary Outcome: Same as current

Current Secondary Outcome: Identification of modifying genomic alterations [ Time Frame: Day 1 ]

Identification of modifying genomic alterations that may indirectly exacerbate the condition.


Original Secondary Outcome: Same as current

Information By: Scripps Translational Science Institute

Dates:
Date Received: September 12, 2011
Date Started: September 2011
Date Completion: September 2017
Last Updated: November 21, 2016
Last Verified: November 2016