Idiopathic Diseases of Man

Rare Disease Clinical Trial

— IDIOM  

Official title:

Idiopathic Diseases of Man (IDIOM)

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT01440218
• Other study ID #: 11-5769
• Status: Enrolling by invitation
• Start date: September 2011
• Est. completion date: December 2030

Study information

• Verified date: March 2021
• Source: Scripps Translational Science Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 10
• Est. completion date: December 2030
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Idiopathic Disease
• Rare Disease
• Rare Diseases

Locations

Country	Name	City	State
United States	Scripps Translational Science Institute	La Jolla	California

Sponsors (1)

Lead Sponsor	Collaborator
Scripps Translational Science Institute

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genomic sequencing of tissue	Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology.	Day 1
Secondary	Identification of modifying genomic alterations	Identification of modifying genomic alterations that may indirectly exacerbate the condition.	Day 1