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

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.

Condition or disease
Rare Disease Idiopathic Disease

Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Idiopathic Diseases of Man (IDIOM)
Study Start Date : September 2011
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rare Diseases

Patients with idiopathic diseases
Study population is limited to individuals with a rare severe illness, and/or their family members.

Primary Outcome Measures :
  1. 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 :
  1. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01440218

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

Responsible Party: Eric Topol, MD, Director, Scripps Translational Science Institute Identifier: NCT01440218     History of Changes
Other Study ID Numbers: 11-5769
First Posted: September 26, 2011    Key Record Dates
Last Update Posted: March 12, 2018
Last Verified: March 2018

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

Additional relevant MeSH terms:
Rare Diseases
Disease Attributes
Pathologic Processes