Ignite Creation Date:
2025-12-24 @ 10:47 PM
Ignite Modification Date:
2025-12-25 @ 8:17 PM
Study NCT ID:
NCT05050669
Status:
COMPLETED
Last Update Posted:
2024-09-19
First Post:
2021-09-10
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C537440', 'term': 'Arterial calcification of infancy'}, {'id': 'C562792', 'term': 'Hypophosphatemic Rickets, Autosomal Recessive, 1'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 12}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2022-04-27', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-09', 'completionDateStruct': {'date': '2024-06-26', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-09-03', 'studyFirstSubmitDate': '2021-09-10', 'studyFirstSubmitQcDate': '2021-09-10', 'lastUpdatePostDateStruct': {'date': '2024-09-19', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-09-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-08-17', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Measurement of Plasma Inorganic Pyrophosphate (PPi) in Plasma', 'timeFrame': 'Up to 12 months', 'description': 'For each subject, blood plasma will be assayed for Plasma Inorganic Pyrophosphate (PPi), comparing the subjects baseline value over time'}, {'measure': 'Determination of Arterial Calcification', 'timeFrame': 'Up to 12 months', 'description': 'For each subject, occurrence of arterial calcification will be examined'}, {'measure': 'Determination of Organ Calcification', 'timeFrame': 'Up to 12 months', 'description': 'For each subject, occurrence of organ calcification will be examined'}, {'measure': 'Determination of skeletal radiographs', 'timeFrame': 'Up to 12 months', 'description': 'For each subject, skeletal radiographs will be obtained to determine skeletal abnormalities and will be compared to baseline'}, {'measure': 'Determination of range of motion', 'timeFrame': 'Up to 12 months', 'description': 'For each subject, aged 4 to \\<18 years, range of motion will be assessed comparing to subjects baseline over time'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency', 'ENPP1', 'ATP-binding cassette subfamily C member 6 deficiency', 'ABCC6', 'Generalized Arterial Calcification of Infancy', 'GACI', 'Autosomal Recessive Hypophosphatemic Rickets Type 2', 'ARHR2', 'hypopyrophosphatemia'], 'conditions': ['Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency', 'ATP-Binding Cassette Subfamily C Member 6 Deficiency', 'Generalized Arterial Calcification of Infancy', 'Autosomal Recessive Hypophosphatemic Rickets']}, 'descriptionModule': {'briefSummary': 'The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency longitudinally. The study will prospectively gather information about the biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes) of each disease.', 'detailedDescription': 'Study INZ701-003 is a multicenter, prospective, longitudinal, observational study to evaluate disease presentation, progression, and burden of illness in pediatric subjects aged 2 to \\<18 years with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency. Subjects will receive care available at the clinical site along with additional assessments administered by the study team.\n\nTo participate in this study, subjects will give informed assent and parents/guardians will provide informed consent.\n\nSubject participation will consist of a Screening Period and an Observation Period.\n\nAssessments will be performed at each visit as indicated in the Schedule of Events.\n\nDuring the Screening Period, assessments will be performed to determine eligibility.\n\nScreening and Baseline assessments may be conducted on the same day if the Investigator determines that the patient can successfully complete all study procedures in one day due to their age. If not, sites may schedule additional visits, as needed. A subject will be enrolled into the study if they meet all eligibility criteria.\n\nDuring the Observation Period, subjects will be assessed for changes in their disease in the following areas: measurements of physiological function (including laboratory testing and anatomical and radiographical assessment of calcification and bone mineralization); performance outcomes; patient, caregiver, and physician reported outcomes; and healthcare utilization.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '2 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'This study will enroll all eligible subjects aged 2 to \\<18 years with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency who consent to participate, with the goal of recruiting up to 20 subjects.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nIndividuals eligible to participate must meet all of the following inclusion criteria:\n\n1. Must provide written consent of the legally authorized representative/caregiver and assent for subjects after the nature of the study has been explained and prior to any research-related procedures, following the policies of the clinical site\n2. Genetic confirmation of ENPP1 Deficiency or ABCC6 Deficiency\n3. Male or female, aged 2 to \\<18 years\n4. In the opinion of the Investigator, must be willing and able to complete all aspects of the study\n5. Agree to provide access to relevant medical records\n\nExclusion Criteria:\n\nIndividuals who meet the following exclusion criterion will not be eligible to participate:\n\n1\\. In the opinion of the Investigator and/or Sponsor, presence of any clinically significant disease (outside of those considered associated with the diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency) that precludes study participation or may confound interpretation of study results, such as an unrelated bone, mineral, or muscle disease or genetic connective tissue disease'}, 'identificationModule': {'nctId': 'NCT05050669', 'briefTitle': 'Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency', 'organization': {'class': 'INDUSTRY', 'fullName': 'Inozyme Pharma'}, 'officialTitle': 'A Prospective Observational Study to Evaluate Disease Presentation and Progression in Subjects With ENPP1 Deficiency and the Early-Onset Form of ABCC6 Deficiency', 'orgStudyIdInfo': {'id': 'INZ701-003'}}, 'armsInterventionsModule': {'interventions': [{'name': 'No Intervention for this observational study', 'type': 'OTHER', 'description': 'No Intervention for this observational study'}]}, 'contactsLocationsModule': {'locations': [{'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': "Boston Children's Hospital", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '19146', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': 'CHOP - Robers Center for Pediatric Research', 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '76104', 'city': 'Fort Worth', 'state': 'Texas', 'country': 'United States', 'facility': "Cook Children's Hospital", 'geoPoint': {'lat': 32.72541, 'lon': -97.32085}}, {'zip': 'H3T 1C5', 'city': 'Montreal', 'state': 'Quebec', 'country': 'Canada', 'facility': 'CHU Sainte-Justine', 'geoPoint': {'lat': 45.50884, 'lon': -73.58781}}, {'zip': 'M13 9WL', 'city': 'Manchester', 'country': 'United Kingdom', 'facility': 'Royal Manchester University Hospital', 'geoPoint': {'lat': 53.48095, 'lon': -2.23743}}], 'overallOfficials': [{'name': 'Kurt Gunter, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Inozyme Pharma, Inc.'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Inozyme Pharma', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}