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OpenTrials
Enrolling by Invitation

NCT Number: NCT01440218

Idiopathic Diseases of Man

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.

Enrolling by Invitation

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Key information

Conditions

Rare Disease Disease Attributes Idiopathic Disease Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Scripps Translational Science Institute

La Jolla, California, 92037, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • 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.
  • Have a significant medical, affective, or psychiatric condition that in the Investigator's opinion may interfere with subject's study participation.

Treatment and study plan

Primary outcomes

  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 outcomes

  1. Identification of modifying genomic alterations

    Time frame: Day 1

    Identification of modifying genomic alterations that may indirectly exacerbate the condition.

Sponsors and collaborators

Lead sponsor

Scripps Translational Science Institute

Other

Registry information

Official study title

Idiopathic Diseases of Man (IDIOM)

Acronym: IDIOM

Important dates

Study start
2011
Primary completion
2025
Study completion
2030
First posted
Sep 26, 2011
Registry last updated
Jan 16, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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