{ "api_version": "1", "request": { "url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Inborn+Errors+of+Metabolism+Disorders&page=33", "query": { "condition": "Inborn Errors of Metabolism Disorders", "page": 33 }, "page_size": 10 }, "pagination": { "page": 33, "page_size": 10, "total_count": 1511, "total_pages": 152, "next_page_url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Inborn+Errors+of+Metabolism+Disorders&page=34&page_size=10", "previous_page_url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Inborn+Errors+of+Metabolism+Disorders&page=32&page_size=10" }, "source": "remote", "last_synced_at": "2026-10-30T16:07:00.458Z", "attribution": "Data derived from public ClinicalTrials.gov records. The official record at https://clinicaltrials.gov/ remains the source of truth for current availability, contacts, and full study details.", "notes": [ "This endpoint exposes only public summary fields — no participant contact emails, phone numbers, or scraped investigator contact details.", "For contact information and full protocol detail, follow each trial's `official_url` to the ClinicalTrials.gov record.", "This API is a navigational aid. It does not provide medical advice, eligibility determinations, or compensation guarantees." ], "trials": [ { "nct_id": "NCT07082725", "title": "A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)", "overall_status": "RECRUITING", "study_type": "INTERVENTIONAL", "phases": [ "PHASE3" ], "conditions": [ "Niemann-Pick Type C Disease" ], "interventions": [ { "name": "Nizubaglustat", "type": "DRUG" }, { "name": "Placebo", "type": "DRUG" } ], "intervention_types": [ "DRUG" ], "sponsor": "Azafaros B.V.", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": "4 Years", "maximum_age": null, "sex": "ALL", "summary": "4 Years and older" }, "enrollment_count": 72, "start_date": "2025-06-30", "completion_date": "2028-06-14", "has_results": false, "last_update_posted_date": "2026-10-28", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 5, "location_summary": "Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more", "locations": [ { "city": "Oakland", "state": "California" }, { "city": "Minneapolis", "state": "Minnesota" }, { "city": "Rochester", "state": "Minnesota" }, { "city": "Dallas", "state": "Texas" }, { "city": "Fairfax", "state": "Virginia" } ], "official_url": "https://clinicaltrials.gov/study/NCT07082725" }, { "nct_id": "NCT00566878", "title": "Pompe Lactation Sub-Registry", "overall_status": "COMPLETED", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Glycogen Storage Disease", "Pompe Disease" ], "interventions": [ { "name": "alglucosidase alfa", "type": "BIOLOGICAL" } ], "intervention_types": [ "BIOLOGICAL" ], "sponsor": "Genzyme, a Sanofi Company", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "FEMALE", "summary": "Female only" }, "enrollment_count": 2, "start_date": "2012-03-31", "completion_date": "2024-02-09", "has_results": false, "last_update_posted_date": "2024-03-19", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 2, "location_summary": "Cambridge, Massachusetts • Grand Rapids, Michigan", "locations": [ { "city": "Cambridge", "state": "Massachusetts" }, { "city": "Grand Rapids", "state": "Michigan" } ], "official_url": "https://clinicaltrials.gov/study/NCT00566878" }, { "nct_id": "NCT03636438", "title": "Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Ornithine Transcarbamylase (OTC) Deficiency" ], "interventions": [ { "name": "No Intervention", "type": "OTHER" } ], "intervention_types": [ "OTHER" ], "sponsor": "Ultragenyx Pharmaceutical Inc", "sponsor_class": "INDUSTRY", "healthy_volunteers": null, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 11, "start_date": "2018-08-30", "completion_date": "2029-12", "has_results": false, "last_update_posted_date": "2026-06-01", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 4, "location_summary": "Aurora, Colorado • Boston, Massachusetts • New York, New York + 1 more", "locations": [ { "city": "Aurora", "state": "Colorado" }, { "city": "Boston", "state": "Massachusetts" }, { "city": "New York", "state": "New York" }, { "city": "Cleveland", "state": "Ohio" } ], "official_url": "https://clinicaltrials.gov/study/NCT03636438" }, { "nct_id": "NCT06597006", "title": "Study to Evaluate Safety, Tolerability and Efficacy of Inclisiran in Children With Homozygous Familial Hypercholesterolemia", "overall_status": "RECRUITING", "study_type": "INTERVENTIONAL", "phases": [ "PHASE3" ], "conditions": [ "Familial Hypercholesterolemia - Homozygous" ], "interventions": [ { "name": "Inclisiran", "type": "DRUG" }, { "name": "Placebo", "type": "DRUG" } ], "intervention_types": [ "DRUG" ], "sponsor": "Novartis Pharmaceuticals", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": "2 Years", "maximum_age": "11 Years", "sex": "ALL", "summary": "2 Years to 11 Years" }, "enrollment_count": 9, "start_date": "2025-02-28", "completion_date": "2029-04-15", "has_results": false, "last_update_posted_date": "2026-07-24", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 4, "location_summary": "San Francisco, California • Washington D.C., District of Columbia • St Louis, Missouri + 1 more", "locations": [ { "city": "San Francisco", "state": "California" }, { "city": "Washington D.C.", "state": "District of Columbia" }, { "city": "St Louis", "state": "Missouri" }, { "city": "Salt Lake City", "state": "Utah" } ], "official_url": "https://clinicaltrials.gov/study/NCT06597006" }, { "nct_id": "NCT06743659", "title": "Computerized Decision Support for Identification and Management of Familial Hypercholesterolemia", "overall_status": "RECRUITING", "study_type": "INTERVENTIONAL", "phases": [ "NA" ], "conditions": [ "Familial Hypercholesterolaemia" ], "interventions": [ { "name": "Alert-based computerized decision support", "type": "DEVICE" } ], "intervention_types": [ "DEVICE" ], "sponsor": "Brigham and Women's Hospital", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 450, "start_date": "2025-04-01", "completion_date": "2027-11-30", "has_results": false, "last_update_posted_date": "2026-09-29", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 1, "location_summary": "Boston, Massachusetts", "locations": [ { "city": "Boston", "state": "Massachusetts" } ], "official_url": "https://clinicaltrials.gov/study/NCT06743659" }, { "nct_id": "NCT03335488", "title": "Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)", "overall_status": "COMPLETED", "study_type": "INTERVENTIONAL", "phases": [ "PHASE4" ], "conditions": [ "Urea Cycle Disorder" ], "interventions": [ { "name": "RAVICTI", "type": "DRUG" }, { "name": "NaPBA", "type": "DRUG" } ], "intervention_types": [ "DRUG" ], "sponsor": "Amgen", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": "99 Years", "sex": "ALL", "summary": "Up to 99 Years" }, "enrollment_count": 16, "start_date": "2018-02-20", "completion_date": "2022-12-20", "has_results": true, "last_update_posted_date": "2024-07-01", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 6, "location_summary": "Gainesville, Florida • New York, New York • Cleveland, Ohio + 3 more", "locations": [ { "city": "Gainesville", "state": "Florida" }, { "city": "New York", "state": "New York" }, { "city": "Cleveland", "state": "Ohio" }, { "city": "Pittsburgh", "state": "Pennsylvania" }, { "city": "Dallas", "state": "Texas" } ], "official_url": "https://clinicaltrials.gov/study/NCT03335488" }, { "nct_id": "NCT06614569", "title": "Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "GM2 Gangliosidosis", "Tay Sachs Disease", "Sandhoff Disease" ], "interventions": [ { "name": "AXO-AAV-GM2", "type": "DRUG" } ], "intervention_types": [ "DRUG" ], "sponsor": "Terence Flotte", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 7, "start_date": "2024-09-17", "completion_date": "2028-12", "has_results": false, "last_update_posted_date": "2025-10-16", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 1, "location_summary": "Worcester, Massachusetts", "locations": [ { "city": "Worcester", "state": "Massachusetts" } ], "official_url": "https://clinicaltrials.gov/study/NCT06614569" }, { "nct_id": "NCT01594541", "title": "A Retrospective Analysis of Cerefolin NAC® in Cognitively Impaired Patients", "overall_status": "UNKNOWN", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Mild Cognitive Impairment" ], "interventions": [], "intervention_types": [], "sponsor": "Pamlab, Inc.", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": "55 Years", "maximum_age": "89 Years", "sex": "ALL", "summary": "55 Years to 89 Years" }, "enrollment_count": 700, "start_date": "2013-01", "completion_date": "2014-04", "has_results": false, "last_update_posted_date": "2014-03-24", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 1, "location_summary": "Springfield, Massachusetts", "locations": [ { "city": "Springfield", "state": "Massachusetts" } ], "official_url": "https://clinicaltrials.gov/study/NCT01594541" }, { "nct_id": "NCT06999954", "title": "Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Shwachman-Diamond Syndrome", "SDS", "IBMF", "Congenital Neutropenia", "Heme Malignancy", "Shwachman Syndrome", "Inherited Bone Marrow Failure", "Exocrine Pancreatic Insufficiency", "WHIM", "ELANE", "SBDS Gene Mutation", "EFL1 Gene Mutation", "DNAJC21 Gene Mutation", "SRP54 Gene Mutation", "Inherited Cancer Syndrome", "Inherited Cancer-Predisposing Syndrome", "Neutropenia, Severe Chronic", "Neutropenia Other", "Neutropenia Chronic Benign", "Ribosome Alteration", "Ribosomopathy", "Immune Deficiency", "Inherited BMF Syndrome", "Inherited Immunodeficiency Diseases", "Cognitive Delay, Mild", "Myelodysplastic Syndromes", "Pancytopenia" ], "interventions": [], "intervention_types": [], "sponsor": "Shwachman-Diamond Syndrome Alliance Inc", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 8000, "start_date": "2024-02-07", "completion_date": "2088-12", "has_results": false, "last_update_posted_date": "2025-05-31", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 1, "location_summary": "Woburn, Massachusetts", "locations": [ { "city": "Woburn", "state": "Massachusetts" } ], "official_url": "https://clinicaltrials.gov/study/NCT06999954" }, { "nct_id": "NCT00837824", "title": "Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme", "overall_status": "TERMINATED", "study_type": "INTERVENTIONAL", "phases": [ "PHASE2" ], "conditions": [ "Fabry Disease", "Chronic Kidney Disease, Stage IV (Severe)" ], "interventions": [ { "name": "Fabrazyme (agalsidase beta)", "type": "BIOLOGICAL" } ], "intervention_types": [ "BIOLOGICAL" ], "sponsor": "Genzyme, a Sanofi Company", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": "16 Years", "maximum_age": null, "sex": "ALL", "summary": "16 Years and older" }, "enrollment_count": 20, "start_date": "2002-12", "completion_date": "2003-08", "has_results": true, "last_update_posted_date": "2015-04-07", "last_synced_at": "2026-10-30T16:07:00.458Z", "location_count": 9, "location_summary": "Farmington, Connecticut • Coral Springs, Florida • Kansas City, Kansas + 6 more", "locations": [ { "city": "Farmington", "state": "Connecticut" }, { "city": "Coral Springs", "state": "Florida" }, { "city": "Kansas City", "state": "Kansas" }, { "city": "Boston", "state": "Massachusetts" }, { "city": "New York", "state": "New York" } ], "official_url": "https://clinicaltrials.gov/study/NCT00837824" } ] }