Idiopathic Diseases of Man (IDIOM)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01440218
Recruitment Status : Enrolling by invitation
First Posted : September 26, 2011
Last Update Posted : March 12, 2018
Information provided by (Responsible Party):
Eric Topol, MD, Scripps Translational Science Institute

September 12, 2011
September 26, 2011
March 12, 2018
September 2011
December 2020   (Final data collection date for primary outcome measure)
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.
Same as current
Complete list of historical versions of study NCT01440218 on Archive Site
Identification of modifying genomic alterations [ Time Frame: Day 1 ]
Identification of modifying genomic alterations that may indirectly exacerbate the condition.
Same as current
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Idiopathic Diseases of Man
Idiopathic Diseases of Man (IDIOM)

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.

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Observational Model: Cohort
Time Perspective: Prospective
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Retention:   Samples With DNA
Blood, saliva, or tissue will be obtained after informed consent is completed.
Non-Probability Sample
Patients with idiopathic diseases, referred by their physician.
  • Rare Disease
  • Idiopathic Disease
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Patients with idiopathic diseases
Study population is limited to individuals with a rare severe illness, and/or their family members.
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Enrolling by invitation
Same as current
December 2020
December 2020   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  1. Individual with rare disorder with previous unknown etiology.
  2. Individual with known disorder that does not respond to conventional treatment.
  3. Individual experienced a rare adverse event that was a result of the administration of a pharmacologic or biologic agent, immunization or device.
  4. Individual is a family member of the affected individual. -

Exclusion Criteria:

  1. Unwilling or unable to grant informed consent if they do not have a legal guardian who has authority to sign a consent form on their behalf.
  2. Have a significant medical, affective, or psychiatric condition that in the Investigator's opinion may interfere with subject's study participation.
Sexes Eligible for Study: All
Child, Adult, Older Adult
Contact information is only displayed when the study is recruiting subjects
United States
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Eric Topol, MD, Scripps Translational Science Institute
Scripps Translational Science Institute
Not Provided
Not Provided
Scripps Translational Science Institute
March 2018