Ignite Creation Date:
2025-12-25 @ 2:54 AM
Ignite Modification Date:
2026-01-01 @ 4:34 AM
Study NCT ID:
NCT05502133
Status:
RECRUITING
Last Update Posted:
2025-08-28
First Post:
2022-08-04
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identification of Acute Intermittent Porphyria Modifying Genes
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017118', 'term': 'Porphyria, Acute Intermittent'}], 'ancestors': [{'id': 'D017094', 'term': 'Porphyrias, Hepatic'}, {'id': 'D008107', 'term': 'Liver Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D011164', 'term': 'Porphyrias'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 150}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2022-09-23', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-08', 'completionDateStruct': {'date': '2026-06', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-08-27', 'studyFirstSubmitDate': '2022-08-04', 'studyFirstSubmitQcDate': '2022-08-12', 'lastUpdatePostDateStruct': {'date': '2025-08-28', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2022-08-16', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-06', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Odds ratios (OR) of the effects of identified modifier genes/variants', 'timeFrame': 'Day 1', 'description': 'There are no primary and secondary endpoints. This is an exploratory genetic study.\n\nExploratory Endpoints: Odds ratios (OR) of the effects of identified modifier genes/variants.\n\n(If putative predisposing or protective gene variants are identified)'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Acute Intermittent Porphyria (AIP)']}, 'descriptionModule': {'briefSummary': 'This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '12 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Willing and able to give informed consent\n* 12 years of age or older\n* Willingness to provide blood/saliva and urine samples, and clinical information\n* A member of an AIP family, defined as (must meet one of the following):\n\n 1. proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator)\n 2. Parents (no known HMBS mutations or heterozygote with familial mutation)\n 3. First, second, or third degree relative of (a) or (b)'}, 'identificationModule': {'nctId': 'NCT05502133', 'briefTitle': 'Identification of Acute Intermittent Porphyria Modifying Genes', 'organization': {'class': 'OTHER', 'fullName': 'Icahn School of Medicine at Mount Sinai'}, 'officialTitle': 'Identification of Acute Intermittent Porphyria Modifying Genes', 'orgStudyIdInfo': {'id': 'GCO 18-1800'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Acute Intermittent Porphyria (AIP)', 'description': 'Symptomatic patients with Acute Intermittent Porphyria (AIP)\n\nA member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '10029', 'city': 'New York', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Chloe Cheung', 'role': 'CONTACT', 'email': 'chloeyihang.cheung@mssm.edu', 'phone': '646-369-2045'}, {'name': 'Robert J Desnick', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Icahn School of Medicine at Mount Sinai', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}], 'centralContacts': [{'name': 'Chloe Cheung', 'role': 'CONTACT', 'email': 'chloeyihang.cheung@mssm.edu', 'phone': '646-369-2045'}], 'overallOfficials': [{'name': 'Robert J Desnick, Ph.D, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Icahn School of Medicine at Mount Sinai'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'Not feasible.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Icahn School of Medicine at Mount Sinai', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Dean for Genetics and Genomic Medicine Emeritus, Professor and Chair Emeritus', 'investigatorFullName': 'Robert Desnick', 'investigatorAffiliation': 'Icahn School of Medicine at Mount Sinai'}}}}