Idiopathic Diseases of Man

NCT01440218 | Enrolling By Invitation DMC

• 1 other identifier: 11-5769
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

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.

Conditions

Rare Disease; Idiopathic Disease

Keywords

Idiopathic diseases; family member of the affected individual; unknown etiology

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Identification of modifying genomic alterations

  Day 1

Study Arms (1)

Patients with idiopathic diseases

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with idiopathic diseases, referred by their physician.

You may qualify if:

• 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. -

You may not qualify if:

• 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.

Sponsors & Collaborators

• Scripps Translational Science Institute: lead

Study Sites (1)

Scripps Translational Science Institute

La Jolla, California, 92037, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood, saliva, or tissue will be obtained after informed consent is completed.

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director

Study Record Dates

• First Submitted: September 12, 2011
• First Posted: September 26, 2011
• Study Start: September 1, 2011
• Primary Completion: December 1, 2025
• Study Completion (Estimated): December 1, 2030
• Last Updated: January 16, 2025

Record last verified: 2025-01

Locations

US (1)