Idiopathic Diseases of Man (IDIOM)

March 16, 2021 updated by: Eric Topol, MD, Scripps Translational Science Institute

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.

Study Overview

Status

Enrolling by invitation

Conditions

Study Type

Observational

Enrollment (Anticipated)

10

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • La Jolla, California, United States, 92037
        • Scripps Translational Science Institute

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with idiopathic diseases, referred by their physician.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Day 1

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of modifying genomic alterations
Time Frame: Day 1
Identification of modifying genomic alterations that may indirectly exacerbate the condition.
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Scripps Translational Science Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2011

Primary Completion (Anticipated)

December 1, 2025

Study Completion (Anticipated)

December 1, 2030

Study Registration Dates

First Submitted

September 12, 2011

First Submitted That Met QC Criteria

September 22, 2011

First Posted (Estimate)

September 26, 2011

Study Record Updates

Last Update Posted (Actual)

March 17, 2021

Last Update Submitted That Met QC Criteria

March 16, 2021

Last Verified

March 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 11-5769

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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