Idiopathic Disease, Rare Disease
Conditions
Keywords
Idiopathic diseases, family member of the affected individual, unknown etiology
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.
Interventions
None listed
Sponsors
Scripps Translational Science Institute
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genomic sequencing of tissue | Day 1 | Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of modifying genomic alterations | Day 1 | Identification of modifying genomic alterations that may indirectly exacerbate the condition. |
Countries
United States
Outcome results
None listed