{ "api_version": "1", "request": { "url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=NP+Deficiency", "query": { "condition": "NP Deficiency" }, "page_size": 10 }, "pagination": { "page": 1, "page_size": 10, "total_count": 7, "total_pages": 1, "next_page_url": null, "previous_page_url": null }, "source": "remote", "last_synced_at": "2026-05-21T23:38:53.501Z", "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": "NCT06092346", "title": "A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "AMPD3, OMIM*102772, AMP Deaminase Deficiency", "AK1, OMIM *103000, Adenylate Kinase Deficiency", "AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency", "TPMT, OMIM *187680, Thoipurines, Poor Metabolism of", "IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11", "APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency", "HPRT1, OMIM *308000 Lesch-Nyhan Disease", "XDH, OMIM *607633, Xanthinuria Type 1", "SLC2A9, OMIM *606142 Hypouricemia", "SLC22A12, OMIM *607096 Hypouricemia", "PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease", "PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity", "AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia", "ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35", "ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency", "PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency", "ADA2, OMIM *607575,Sneddon Syndrome; VAIHS", "CAD, *1140120, Developmental and Epileptic Encephalopathy", "UPB1, OMIM *606673, Beta-ureidopropionase Deficiency", "DPYS, OMIM *613326, Dihydropyrimidinase Deficiency", "DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency", "DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis)", "UMPS, OMIM *613891, Orotic Aciduria", "NT5C3A, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency", "UNG, OMIM *191525, Hyper-IgM Syndrome 5", "AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2", "Purine-Pyrimidine Metabolism", "Metabolic Disease" ], "interventions": [], "intervention_types": [], "sponsor": "National Human Genome Research Institute (NHGRI)", "sponsor_class": "NIH", "healthy_volunteers": false, "eligibility": { "minimum_age": "1 Month", "maximum_age": "100 Years", "sex": "ALL", "summary": "1 Month to 100 Years" }, "enrollment_count": 999, "start_date": "2023-12-19", "completion_date": "2099-01-01", "has_results": false, "last_update_posted_date": "2025-09-04", "last_synced_at": "2026-05-21T23:38:53.501Z", "location_count": 1, "location_summary": "Bethesda, Maryland", "locations": [ { "city": "Bethesda", "state": "Maryland" } ], "official_url": "https://clinicaltrials.gov/study/NCT06092346" }, { "nct_id": "NCT03333200", "title": "Longitudinal Study of Neurodegenerative Disorders", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "MLD", "Krabbe Disease", "ALD", "MPS I", "MPS II", "MPS III", "Vanishing White Matter Disease", "GM3 Gangliosidosis", "PKAN", "Tay-Sachs Disease", "NP Deficiency", "Osteopetrosis", "Alpha-Mannosidosis", "Sandhoff Disease", "Niemann-Pick Diseases", "MPS IV", "Gaucher Disease", "GAN", "GM1 Gangliosidoses", "Morquio Disease", "S-Adenosylhomocysteine Hydrolase Deficiency", "Batten Disease", "Pelizaeus-Merzbacher Disease", "Leukodystrophy", "Lysosomal Storage Diseases", "Purine Nucleoside Phosphorylase Deficiency", "Multiple Sulfatase Deficiency Disease" ], "interventions": [ { "name": "Palliative Care", "type": "OTHER" }, { "name": "Hematopoetic Stem Cell Transplantation", "type": "BIOLOGICAL" } ], "intervention_types": [ "OTHER", "BIOLOGICAL" ], "sponsor": "University of Pittsburgh", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 1500, "start_date": "2012-01-11", "completion_date": "2035-01", "has_results": false, "last_update_posted_date": "2026-02-09", "last_synced_at": "2026-05-21T23:38:53.501Z", "location_count": 1, "location_summary": "Pittsburgh, Pennsylvania", "locations": [ { "city": "Pittsburgh", "state": "Pennsylvania" } ], "official_url": "https://clinicaltrials.gov/study/NCT03333200" }, { "nct_id": "NCT05781542", "title": "Clinical Trial to Evaluate the Safety and Immunogenicity of Synthetic DNAs Encoding NP-GT8 and IL-12, With or Without a TLR-agonist-Adjuvanted HIV Env Trimer 4571 Boost, in Adults Without HIV", "overall_status": "COMPLETED", "study_type": "INTERVENTIONAL", "phases": [ "PHASE1" ], "conditions": [ "HIV Infections" ], "interventions": [ { "name": "sD-NP-GT8 DNA", "type": "BIOLOGICAL" }, { "name": "IL-12 DNA", "type": "BIOLOGICAL" }, { "name": "Trimer 4571", "type": "BIOLOGICAL" }, { "name": "3M-052-AF", "type": "BIOLOGICAL" }, { "name": "Alum", "type": "DRUG" } ], "intervention_types": [ "BIOLOGICAL", "DRUG" ], "sponsor": "National Institute of Allergy and Infectious Diseases (NIAID)", "sponsor_class": "NIH", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": "55 Years", "sex": "ALL", "summary": "18 Years to 55 Years" }, "enrollment_count": 46, "start_date": "2023-04-10", "completion_date": "2025-04-14", "has_results": true, "last_update_posted_date": "2025-11-14", "last_synced_at": "2026-05-21T23:38:53.501Z", "location_count": 4, "location_summary": "Birmingham, Alabama • San Francisco, California • Boston, Massachusetts", "locations": [ { "city": "Birmingham", "state": "Alabama" }, { "city": "San Francisco", "state": "California" }, { "city": "San Francisco", "state": "California" }, { "city": "Boston", "state": "Massachusetts" } ], "official_url": "https://clinicaltrials.gov/study/NCT05781542" }, { "nct_id": "NCT02722304", "title": "Stage 1 Study of ARALAST NP and GLASSIA in A1PI Deficiency", "overall_status": "TERMINATED", "study_type": "INTERVENTIONAL", "phases": [ "PHASE3" ], "conditions": [ "Chronic Obstructive Pulmonary Disease", "Alpha1-antitrypsin Deficiency" ], "interventions": [ { "name": "ARALAST NP 60 mg/kg", "type": "BIOLOGICAL" }, { "name": "ARALAST NP 120 mg/kg", "type": "BIOLOGICAL" }, { "name": "GLASSIA 60 mg/kg", "type": "BIOLOGICAL" }, { "name": "GLASSIA 120 mg/kg", "type": "BIOLOGICAL" }, { "name": "Human Albumin 2%", "type": "BIOLOGICAL" } ], "intervention_types": [ "BIOLOGICAL" ], "sponsor": "Baxalta now part of Shire", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 7, "start_date": "2016-11-02", "completion_date": "2018-09-14", "has_results": true, "last_update_posted_date": "2021-05-13", "last_synced_at": "2026-05-21T23:38:53.501Z", "location_count": 14, "location_summary": "Peoria, Arizona • Newport Beach, California • Kissimmee, Florida + 11 more", "locations": [ { "city": "Peoria", "state": "Arizona" }, { "city": "Newport Beach", "state": "California" }, { "city": "Kissimmee", "state": "Florida" }, { "city": "Miami", "state": "Florida" }, { "city": "Maywood", "state": "Illinois" } ], "official_url": "https://clinicaltrials.gov/study/NCT02722304" }, { "nct_id": "NCT01183468", "title": "A Research Trial of Aralast in New Onset Diabetes (RETAIN)", "overall_status": "TERMINATED", "study_type": "INTERVENTIONAL", "phases": [ "PHASE1" ], "conditions": [ "Diabetes Mellitus, Type 1" ], "interventions": [ { "name": "Aralast NP 45 mg dose", "type": "BIOLOGICAL" }, { "name": "Aralast NP 90 mg dose", "type": "BIOLOGICAL" }, { "name": "Aralast NP 180 mg dose", "type": "BIOLOGICAL" } ], "intervention_types": [ "BIOLOGICAL" ], "sponsor": "National Institute of Allergy and Infectious Diseases (NIAID)", "sponsor_class": "NIH", "healthy_volunteers": false, "eligibility": { "minimum_age": "8 Years", "maximum_age": "35 Years", "sex": "ALL", "summary": "8 Years to 35 Years" }, "enrollment_count": 17, "start_date": "2010-10", "completion_date": "2013-07", "has_results": true, "last_update_posted_date": "2018-06-13", "last_synced_at": "2026-05-21T23:38:53.501Z", "location_count": 15, "location_summary": "San Diego, California • Aurora, Colorado • New Haven, Connecticut + 10 more", "locations": [ { "city": "San Diego", "state": "California" }, { "city": "Aurora", "state": "Colorado" }, { "city": "New Haven", "state": "Connecticut" }, { "city": "Atlanta", "state": "Georgia" }, { "city": "Atlanta", "state": "Georgia" } ], "official_url": "https://clinicaltrials.gov/study/NCT01183468" }, { "nct_id": "NCT00008450", "title": "Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant", "overall_status": "COMPLETED", "study_type": "INTERVENTIONAL", "phases": [ "PHASE1" ], "conditions": [ "Adenosine Deaminase Deficiency", "Autosomal Recessive Disorder", "Immune System Disorder", "Purine-Nucleoside Phosphorylase Deficiency", "Severe Combined Immunodeficiency", "Severe Combined Immunodeficiency With Absence of T and B Cells", "X-Linked Severe Combined Immunodeficiency" ], "interventions": [ { "name": "Allogeneic Bone Marrow Transplantation", "type": "PROCEDURE" }, { "name": "Cyclosporine", "type": "DRUG" }, { "name": "Laboratory Biomarker Analysis", "type": "OTHER" }, { "name": "Mycophenolate Mofetil", "type": "DRUG" }, { "name": "Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation", "type": "PROCEDURE" }, { "name": "Total-Body Irradiation", "type": "RADIATION" } ], "intervention_types": [ "PROCEDURE", "DRUG", "OTHER", "RADIATION" ], "sponsor": "Fred Hutchinson Cancer Center", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 6, "start_date": "1997-08-11", "completion_date": "2018-12-26", "has_results": false, "last_update_posted_date": "2019-07-29", "last_synced_at": "2026-05-21T23:38:53.501Z", "location_count": 1, "location_summary": "Seattle, Washington", "locations": [ { "city": "Seattle", "state": "Washington" } ], "official_url": "https://clinicaltrials.gov/study/NCT00008450" }, { "nct_id": "NCT01183455", "title": "A Research Trial of Aralast NP in New Onset Diabetes (RETAIN) - Part II", "overall_status": "WITHDRAWN", "study_type": "INTERVENTIONAL", "phases": [ "PHASE2" ], "conditions": [ "Diabetes Mellitus, Type 1" ], "interventions": [ { "name": "Aralast NP", "type": "DRUG" }, { "name": "Placebo", "type": "DRUG" } ], "intervention_types": [ "DRUG" ], "sponsor": "National Institute of Allergy and Infectious Diseases (NIAID)", "sponsor_class": "NIH", "healthy_volunteers": false, "eligibility": { "minimum_age": "8 Years", "maximum_age": "35 Years", "sex": "ALL", "summary": "8 Years to 35 Years" }, "enrollment_count": 0, "start_date": "2010-10", "completion_date": "2014-08", "has_results": false, "last_update_posted_date": "2014-12-31", "last_synced_at": "2026-05-21T23:38:53.501Z", "location_count": 15, "location_summary": "La Jolla, California • Aurora, Colorado • New Haven, Connecticut + 10 more", "locations": [ { "city": "La Jolla", "state": "California" }, { "city": "Aurora", "state": "Colorado" }, { "city": "New Haven", "state": "Connecticut" }, { "city": "Atlanta", "state": "Georgia" }, { "city": "Atlanta", "state": "Georgia" } ], "official_url": "https://clinicaltrials.gov/study/NCT01183455" } ] }