[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Inozyme Pharma\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":84},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,51],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":26,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":45,"leadSponsor":47,"locationsCount":50},"100539330","propel---a-prospective-observational-patient-registry-to-evaluate-enpp1-and-abcc6-deficiency-100539330",false,"NCT06302439","PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency","A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients With ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency (GACI Type 2)","Inclusion Criteria:\n\nIndividuals eligible to participate must meet all the following inclusion criteria:\n\n1. Must provide written or electronic consent after the nature of the registry has been explained, and prior to any research-related procedures, per International Council for Harmonisation (ICH) Good Clinical Practice (GCP)\n2. Agree to provide access to relevant medical records\n3. One of the following genetic or clinical criteria\n\n   1. A confirmed prenatal or postnatal molecular genetic diagnosis of ENPP1 Deficiency with biallelic mutations (ie, homozygous or compound heterozygous) performed by a College of American Pathologists\u002FClinical Laboratory Improvement Amendments (CAP\u002FCLIA) certified laboratory or regional equivalent\n\n      OR\n   2. Monoallelic ENPP1 mutation confirmed by a certified CAP\u002FCLIA laboratory or regional equivalent and any of the following clinical symptoms:\n\n   i. ≥ 1 traumatic vertebral fracture\n\nii. ≥ 2 fractures as an adult (eg, long-bones, digits, vertebrae)\n\niii. Low bone mineral density (dual-energy X-ray absorptiometry \\[DXA\\] Z-score \\\u003C1.5) and \\\u003C55 years of age\n\niv. Bone or joint pain interfering with movement or daily activities\n\nv. History of myocardial infarction (MI), unstable angina, transient ischemic attack (TIA) or low cardiac output before the age of 40 yrs.\n\nvi. History of rickets or bone deformity\n\nvii. Diagnosis of ossification of the posterior longitudinal ligament (OPLL)\n\nviii. Other clinical symptoms, with approval by Inozyme\n\nOR\n\nc. A confirmed prenatal or postnatal molecular genetic diagnosis of ABCC6 Deficiency with biallelic mutations confirmed by a certified CAP\u002FCLIA laboratory or regional equivalent, and \\\u003C18 years of age\n\nExclusion Criteria:\n\nIndividuals who meet the following exclusion criteria will not be eligible to participate:\n\n1. Participant or their legally designated representative does not have the cognitive capacity to provide informed consent\n2. Patients who are currently participating in an INZ-701 interventional clinical study, with the exception of expanded access programs and long-term safety follow-up studies\n\n   1. Participants in interventional studies may be approached for inclusion in the registry once their involvement in the treatment period of the clinical study has been completed","ALL",{"count":18,"type":19},1000,"ESTIMATED","10 Years","OBSERVATIONAL","The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatase\u002Fphosphodiesterase1(ENPP1) Deficiency and the infantile-onset form of adenosine triphosphate (ATP) binding cassette transporter protein subfamily C member 6 (ABCC6) Deficiency longitudinally. The registry will prospectively gather information about the genetic, biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes \\[PROs\\]) of each disease during routine, standard-of-care visits, with the aim of developing a comprehensive understanding of the burden of illness and progressive nature of the disease.",[24,25],"Ectonucleotide Pyrophosphatase\u002FPhosphodiesterase 1 Deficiency","ATP-Binding Cassette Subfamily C Member 6 Deficiency",[27,28,29,30,31,32,33,34,25,35,36,37],"Ectonucleotide pyrophosphatase","ENPP1","Generalized Arterial Calcification of Infancy","GACI","Autosomal Recessive Hypophosphatemic Rickets Type 2","ARHR2","Observational","Registry","ABCC6","PROPEL","Phosphodiesterase 1","RECRUITING","2025-12-15",{"date":41,"type":42},"2025-12-22","ACTUAL",{"date":44,"type":42},"2024-07-25",{"date":46,"type":19},"2034-05",{"name":48,"class":49},"Inozyme Pharma","INDUSTRY",14,{"id":52,"slug":53,"hasResults":11,"nctId":54,"briefTitle":55,"officialTitle":56,"acronym":4,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":16,"minAge":58,"maxAge":4,"enrollmentInfo":59,"targetDuration":4,"studyType":61,"phases":62,"briefSummary":64,"conditions":65,"keywords":70,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":83},"100551627","phase-2-adapt-study-long-term-safety-study-of-inz-701-in-patients-with-enpp1-deficiency-and-abcc6-deficiency-100551627","NCT06462547","ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency","The ADAPT Study: An Open-label, Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency","Individuals eligible to participate must meet all of the following inclusion criteria:\n\n1. Provide written or electronic informed consent after the nature of the study has been explained, and prior to any research-related procedures, per International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) Good Clinical Practice (GCP)\n2. Provide assent in accordance with local regulations, if \\\u003C18 years of age\n3. Male or female, greater than 1 year of age\n4. Must have completed the protocol-required safety and PK\u002FPD and\u002For efficacy period(s) of a previous INZ-701 clinical study in ENPP1 or ABCC6 Deficiency, as confirmed by the Sponsor\n5. Female participants of childbearing potential who are sexually active must be using or agree to use 1 highly effective form of contraception (per CTFG 2020) from at least 1 month before the first dose of INZ-701 through 30 days after last dose of INZ-701 (greater than 5 half-lives of INZ-701); participants must agree to not donate ova from the period following the first dose of INZ-701 through 30 days after the last dose of INZ-701\n6. Male participants who are sexually active must agree to use condoms from the period following the first dose of INZ-701 through 30 days after the last dose of INZ-701; participants must agree to not donate sperm from the period following the first dose of INZ-701 through 30 days after last dose of INZ-701\n7. In the opinion of the Investigator, able to complete all aspects of the study\n\nIndividuals who meet any of the following exclusion criteria will not be eligible to participate:\n\n1. In the opinion of the Investigator, presence of any clinically significant disease or laboratory abnormality not associated with ENPP1 Deficiency or ABCC6 Deficiency, that will preclude study participation and\u002For may confound interpretation of study results\n2. Known intolerance to INZ-701 or any of its excipients\n3. Concurrent participation in another interventional clinical study and\u002For has received an investigational drug other than INZ-701 within 5 half-lives or within 4 weeks prior to the first dose of INZ-701 in this study, whichever is longer, or use of an investigational device\n4. Pregnant, trying to become pregnant, or breastfeeding\n5. Male participants trying to father a child","1 Year",{"count":60,"type":19},200,"INTERVENTIONAL",[63],"PHASE2","The purpose of this study (Study INZ701-304 \\[ADAPT\\]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to continue dosing for the potential treatment of their condition.",[66,67,68,69,31],"Gene Mutations","Pseudoxanthoma Elasticum","Arterial Calcification","Ectonucleotide Pyrophosphatase\u002Fphosphodiesterase1 Deficiency",[35,25,71,72,30,29,32,31,28,73,74],"PXE","Pseudoxanthoma elasticum","ectonucleotide pyrophosphatase\u002Fphosphodiesterase1 deficiency","hypopyrophosphatemia","2024-11-26",{"date":77,"type":42},"2024-11-29",{"date":79,"type":42},"2024-06-19",{"date":81,"type":19},"2030-12",{"name":48,"class":49},5,""]