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Idiopathic Diseases of Man (IDIOM)

This study is enrolling participants by invitation only.
Information provided by (Responsible Party):
Eric Topol, MD, Scripps Translational Science Institute Identifier:
First received: September 12, 2011
Last updated: November 21, 2016
Last verified: November 2016

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.

Rare Disease
Idiopathic Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Idiopathic Diseases of Man (IDIOM)

Resource links provided by NLM:

Further study details as provided by Scripps Translational Science Institute:

Primary Outcome Measures:
  • 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.

Secondary Outcome Measures:
  • 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
Blood, saliva, or tissue will be obtained after informed consent is completed.

Estimated Enrollment: 10
Study Start Date: September 2011
Estimated Study Completion Date: September 2017
Estimated Primary Completion Date: September 2017 (Final data collection date for primary outcome measure)
Patients with idiopathic diseases
Study population is limited to individuals with a rare severe illness, and/or their family members.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with idiopathic diseases, referred by their physician.

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01440218

United States, California
Scripps Translational Science Institute
La Jolla, California, United States, 92037
Sponsors and Collaborators
Scripps Translational Science Institute
  More Information

Responsible Party: Eric Topol, MD, Director, Scripps Translational Science Institute Identifier: NCT01440218     History of Changes
Other Study ID Numbers: 11-5769
Study First Received: September 12, 2011
Last Updated: November 21, 2016

Keywords provided by Scripps Translational Science Institute:
Idiopathic diseases
family member of the affected individual
unknown etiology

Additional relevant MeSH terms:
Rare Diseases
Disease Attributes
Pathologic Processes processed this record on May 25, 2017