Idiopathic Diseases of Man

Idiopathic Diseases of Man (IDIOM)


Lead Sponsor: Scripps Translational Science Institute

Source 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.

Overall Status Enrolling by invitation
Start Date September 2011
Completion Date December 2020
Primary Completion Date December 2020
Study Type Observational
Primary Outcome
Measure Time Frame
Genomic sequencing of tissue Day 1
Secondary Outcome
Measure Time Frame
Identification of modifying genomic alterations Day 1
Enrollment 10

Sampling Method: Non-Probability Sample


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.

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Facility: Scripps Translational Science Institute
Location Countries

United States

Verification Date

April 2019

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Scripps Translational Science Institute

Investigator Full Name: Eric Topol, MD

Investigator Title: Director

Has Expanded Access No
Condition Browse
Arm Group

Label: Patients with idiopathic diseases

Description: Study population is limited to individuals with a rare severe illness, and/or their family members.

Acronym IDIOM
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective