Ignite Creation Date:
2025-12-25 @ 4:29 AM
Ignite Modification Date:
2025-12-26 @ 3:32 AM
Study NCT ID:
NCT01440218
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2025-01-16
First Post:
2011-09-12
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Idiopathic Diseases of Man
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood, saliva, or tissue will be obtained after informed consent is completed.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 10}}, 'statusModule': {'overallStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2011-09'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-01', 'completionDateStruct': {'date': '2030-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-01-15', 'studyFirstSubmitDate': '2011-09-12', 'studyFirstSubmitQcDate': '2011-09-22', 'lastUpdatePostDateStruct': {'date': '2025-01-16', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2011-09-26', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genomic sequencing of tissue', 'timeFrame': 'Day 1', 'description': 'Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology.'}], 'secondaryOutcomes': [{'measure': 'Identification of modifying genomic alterations', 'timeFrame': 'Day 1', 'description': 'Identification of modifying genomic alterations that may indirectly exacerbate the condition.'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['Idiopathic diseases', 'family member of the affected individual', 'unknown etiology'], 'conditions': ['Rare Disease', 'Idiopathic Disease']}, 'descriptionModule': {'briefSummary': '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.\n\nThe 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.\n\nHypothesis: Identification of new genomic variants associated with idiopathic diseases and/or diseases of unknown etiology will advance medical knowledge about rare and common diseases.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with idiopathic diseases, referred by their physician.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n1. Individual with rare disorder with previous unknown etiology.\n2. Individual with known disorder that does not respond to conventional treatment.\n3. Individual experienced a rare adverse event that was a result of the administration of a pharmacologic or biologic agent, immunization or device.\n4. Individual is a family member of the affected individual. -\n\nExclusion Criteria:\n\n1. 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.\n2. Have a significant medical, affective, or psychiatric condition that in the Investigator's opinion may interfere with subject's study participation."}, 'identificationModule': {'nctId': 'NCT01440218', 'acronym': 'IDIOM', 'briefTitle': 'Idiopathic Diseases of Man', 'organization': {'class': 'OTHER', 'fullName': 'Scripps Translational Science Institute'}, 'officialTitle': 'Idiopathic Diseases of Man (IDIOM)', 'orgStudyIdInfo': {'id': '11-5769'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with idiopathic diseases', 'description': 'Study population is limited to individuals with a rare severe illness, and/or their family members.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '92037', 'city': 'La Jolla', 'state': 'California', 'country': 'United States', 'facility': 'Scripps Translational Science Institute', 'geoPoint': {'lat': 32.84727, 'lon': -117.2742}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Scripps Translational Science Institute', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Director', 'investigatorFullName': 'Eric Topol, MD', 'investigatorAffiliation': 'Scripps Translational Science Institute'}}}}