Rare DiseaseIDIOMNCT01440218
Idiopathic Diseases of Man
An observational study of Rare Disease and Idiopathic Disease, run by Scripps Translational Science Institute at 1 site in United States.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Disease, Idiopathic Disease
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2011to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with idiopathic diseases, referred by their physician.
Who may be able to join
- 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. -
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Scripps Translational Science Institute
La Jolla, California, 92037
About this study
Official title: Idiopathic Diseases of Man (IDIOM)
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
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with idiopathic diseases | Study population is limited to individuals with a rare severe illness, and/or their family members. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Day 1
Secondary outcomes (1)
Identification of modifying genomic alterations
Identification of modifying genomic alterations that may indirectly exacerbate the condition.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2011 (estimated)
- Study startSep 2011
- Primary completionDec 2025 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Scripps Translational Science Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Eric Topol, MD, Scripps Translational Science Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01440218
- Sponsor's protocol ID
- 11-5769
- Acronym
- IDIOM
- Status last verified
- Jan 2025
- First submitted
- 12 Sep 2011
- Last updated
- 16 Jan 2025
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Idiopathic Diseases of Man (IDIOM)
- ClinicalTrials.gov ID
- NCT01440218
- Acronym / sponsor ID
- IDIOM / 11-5769
- Conditions
- Rare Disease, Idiopathic Disease
- Keywords
- Idiopathic diseases, family member of the affected individual, unknown etiology
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Scripps Translational Science InstituteUniversity, hospital or other
- Study start
- Sep 2011
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 26 Sep 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with idiopathic diseases | – | –Study population is limited to individuals with a rare severe illness, and/or their family members. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with idiopathic diseases, referred by their physician.
Key inclusion criteria (4 listed)
- 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. -
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Identification of modifying genomic alterations
Time frame: Day 1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Disease and Idiopathic Disease, run by Scripps Translational Science Institute at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 16 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genomic sequencing of tissue (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jan 2025.