{ "api_version": "1", "request": { "url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=ADSL", "query": { "condition": "ADSL" }, "page_size": 10 }, "pagination": { "page": 1, "page_size": 10, "total_count": 2, "total_pages": 1, "next_page_url": null, "previous_page_url": null }, "source": "remote", "last_synced_at": "2026-05-22T04:29:28.507Z", "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": "2026-05-22T04:29:28.507Z", "location_count": 1, "location_summary": "Bethesda, Maryland", "locations": [ { "city": "Bethesda", "state": "Maryland" } ], "official_url": "https://clinicaltrials.gov/study/NCT06092346" }, { "nct_id": "NCT01238250", "title": "Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "16P11.2 Deletion Syndrome", "16p11.2 Duplications", "1Q21.1 Deletion", "1Q21.1 Microduplication Syndrome (Disorder)", "ACTL6B", "ADNP", "AHDC1", "ANK2", "ANKRD11", "ARID1B", "ASH1L", "BCL11A", "CHAMP1", "CHD2", "CHD8", "CSNK2A1", "CTBP1", "CTNNB1 Gene Mutation", "CUL3", "DDX3X", "DNMT3A", "DSCAM", "DYRK1A", "FOXP1", "GRIN2A", "GRIN2B", "HIVEP2-Related Intellectual Disability", "HNRNPH2", "KATNAL2", "KDM5B", "KDM6B", "KMT2C Gene Mutation", "KMT2E", "KMT5B", "MBD5", "MED13L", "PACS1", "PPP2R5D-Related Intellectual Disability", "PTCHD1", "REST", "SCN2A Encephalopathy", "SETBP1 Gene Mutation", "SETD5", "SMARCA4 Gene Mutation", "SMARCC2", "STXBP1 Encephalopathy With Epilepsy", "SYNGAP1-Related Intellectual Disability", "TBR1", "ARHGEF9", "HNRNPU", "PPP3CA", "PPP2R1A", "SLC6A1", "2p16.3 Deletions", "5q35 Deletions", "5q35 Duplications", "7q11.23 Duplications", "15Q13.3 Deletion Syndrome", "16p11.2 Triplications", "16P12.2 Microdeletion", "16P13.11 Microdeletion Syndrome (Disorder)", "17Q12 Microdeletion Syndrome (Disorder)", "17Q12 Duplication Syndrome", "17Q21.31 Deletion Syndrome", "17q21.3 Duplications", "ACTB", "ADSL", "AFF2", "ALDH5A1", "ANK3", "ARX", "ATRX Gene Mutation", "AUTS2 Syndrome", "BCKDK", "BRSK2", "CACNA1C", "CAPRIN1", "CASK", "CASZ1", "CHD3", "CIC", "CNOT3", "CREBBP Gene Mutation", "CSDE1", "CTCF", "DEAF1", "DHCR7", "DLG4", "EBF3", "EHMT1", "EP300 Gene Mutation", "GIGYF1", "GRIN1", "GRIN2D", "IQSEC2-Related Syndromic Intellectual Disability", "IRF2BPL", "KANSL1", "KCNB1", "KDM3B", "NEXMIF", "KMT2A", "MBOAT7", "MEIS2", "MYT1L", "NAA15", "NBEA", "NCKAP1", "NIPBL", "NLGN2", "NLGN3", "NLGN4X", "NR4A2", "NRXN1", "NRXN2", "NSD1 Gene Mutation", "PHF21A", "PHF3", "PHIP", "POMGNT1", "PSMD12", "RELN", "RERE", "RFX3", "RIMS1", "RORB", "SCN1A", "SETD2 Gene Mutation", "SHANK2", "SIN3A", "SLC9A6", "SON", "SOX5", "SPAST", "SRCAP", "TAOK1", "TANC2", "TCF20", "TLK2", "TRIO", "TRIP12", "UPF3B", "USP9X", "VPS13B", "WAC", "WDFY3", "ZBTB20", "ZNF292", "ZNF462", "2Q37 Deletion Syndrome", "9q34 Duplications", "15q15 Deletions", "15Q24 Deletion", "NR3C2", "SYNCRIP", "2q34 Duplication", "2q37.3 Deletion", "6q16 Deletion", "15q11.2 BP1-BP2 Deletion", "16p13.3 Deletion", "17Q11.2 Microduplication Syndrome (Disorder)", "17p13.3", "Xq28 Duplication", "CLCN4", "CSNK2B", "DYNC1H1", "EIF3F", "GNB1", "MED13", "MEF2C", "RALGAPB", "SCN1B", "YY1", "Xp11.22 Duplication", "PACS2", "MAOA", "MAOB", "HNRNPC", "HNRNPD", "HNRNPK", "HNRNPR", "HNRNPUL2", "5P Deletion Syndrome", "TCF7L2 Gene Mutation", "HECW2" ], "interventions": [], "intervention_types": [], "sponsor": "Simons Searchlight", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 100000, "start_date": "2010-10", "completion_date": "2050-10", "has_results": false, "last_update_posted_date": "2025-06-06", "last_synced_at": "2026-05-22T04:29:28.507Z", "location_count": 2, "location_summary": "Boston, Massachusetts • Lewisburg, Pennsylvania", "locations": [ { "city": "Boston", "state": "Massachusetts" }, { "city": "Lewisburg", "state": "Pennsylvania" } ], "official_url": "https://clinicaltrials.gov/study/NCT01238250" } ] }