Idiopathic Diseases of Man
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Rare Disease, Idiopathic Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Idiopathic Diseases of Man (IDIOM)
Overview
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.
Primary outcome measures
- Genomic sequencing of tissue [Time frame: Day 1]
Secondary outcome measures (1)
- Identification of modifying genomic alterations [Time frame: Day 1]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Scripps Translational Science Institute — La Jolla
Identifiers
NCT: NCT01440218 · 11-5769