Idiopathic Diseases of Man (IDIOM)
|ClinicalTrials.gov Identifier: NCT01440218|
Recruitment Status : Enrolling by invitation
First Posted : September 26, 2011
Last Update Posted : March 12, 2018
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.
|Condition or disease|
|Rare Disease Idiopathic Disease|
|Study Type :||Observational|
|Estimated Enrollment :||10 participants|
|Official Title:||Idiopathic Diseases of Man (IDIOM)|
|Study Start Date :||September 2011|
|Estimated Primary Completion Date :||December 2020|
|Estimated Study Completion Date :||December 2020|
Patients with idiopathic diseases
Study population is limited to individuals with a rare severe illness, and/or their family members.
- 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.
- Identification of modifying genomic alterations [ Time Frame: Day 1 ]Identification of modifying genomic alterations that may indirectly exacerbate the condition.
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01440218
|United States, California|
|Scripps Translational Science Institute|
|La Jolla, California, United States, 92037|