{ "api_version": "1", "request": { "url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Microdeletion+Syndromes", "query": { "condition": "Microdeletion Syndromes" }, "page_size": 10 }, "pagination": { "page": 1, "page_size": 10, "total_count": 6, "total_pages": 1, "next_page_url": null, "previous_page_url": null }, "source": "remote", "last_synced_at": "2026-05-22T06:43:40.736Z", "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": "NCT06938542", "title": "Palliative Care Needs of Children With Rare Diseases and Their Families", "overall_status": "ENROLLING_BY_INVITATION", "study_type": "INTERVENTIONAL", "phases": [ "NA" ], "conditions": [ "Trisomy 13 Syndrome", "Arthrogryposis Congenita Multiplex With Intestinal Atresia", "Asparagine Synthetase Deficiency", "CHARGE Syndrome", "Early Infantile Epileptic Encephalopathy", "FOXG1 Syndrome", "KBG Syndrome", "Noonan Syndrome", "Severe Hemophilia A", "Short Bowel Syndrome", "Beta-Propeller Protein-Associated Neurodegeneration", "Brain Injury of Prematurity With Periventricular Leukomalacia", "Chromosome 17p13.3 Microdeletion Syndrome", "Chromosome 1q43-1q44 Deletion", "Cockayne Syndrome", "Congenital Diaphragmatic Hernia", "End-Stage Renal Disease With Cloacal Anomaly", "Mitochondrial Depletion Disorder", "Severe Factor VII Deficiency" ], "interventions": [ { "name": "Family Centered pediatric palliative care for family caregivers of children with rare diseases.", "type": "BEHAVIORAL" } ], "intervention_types": [ "BEHAVIORAL" ], "sponsor": "Children's National Research Institute", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "12 Months", "maximum_age": "99 Years", "sex": "ALL", "summary": "12 Months to 99 Years" }, "enrollment_count": 480, "start_date": "2025-10-02", "completion_date": "2029-08-02", "has_results": false, "last_update_posted_date": "2026-01-28", "last_synced_at": "2026-05-22T06:43:40.736Z", "location_count": 1, "location_summary": "Washington D.C., District of Columbia", "locations": [ { "city": "Washington D.C.", "state": "District of Columbia" } ], "official_url": "https://clinicaltrials.gov/study/NCT06938542" }, { "nct_id": "NCT02447861", "title": "The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Microdeletion 3q29 Syndrome", "Microduplication 3q29 Syndrome" ], "interventions": [], "intervention_types": [], "sponsor": "Rutgers, The State University of New Jersey", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 800, "start_date": "2013-07", "completion_date": "2028-01", "has_results": false, "last_update_posted_date": "2026-05-20", "last_synced_at": "2026-05-22T06:43:40.736Z", "location_count": 1, "location_summary": "Piscataway, New Jersey", "locations": [ { "city": "Piscataway", "state": "New Jersey" } ], "official_url": "https://clinicaltrials.gov/study/NCT02447861" }, { "nct_id": "NCT01852708", "title": "Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood", "overall_status": "COMPLETED", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Trisomy 21", "Trisomy 18", "Trisomy 13", "Sex Chromosome Abnormalities", "Microdeletion Syndromes" ], "interventions": [], "intervention_types": [], "sponsor": "Natera, Inc.", "sponsor_class": "INDUSTRY", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 1059, "start_date": "2012-11", "completion_date": "2020-10", "has_results": false, "last_update_posted_date": "2020-12-30", "last_synced_at": "2026-05-22T06:43:40.736Z", "location_count": 7, "location_summary": "San Carlos, California • San Gabriel, California • Washington D.C., District of Columbia + 4 more", "locations": [ { "city": "San Carlos", "state": "California" }, { "city": "San Gabriel", "state": "California" }, { "city": "Washington D.C.", "state": "District of Columbia" }, { "city": "New Brunswick", "state": "New Jersey" }, { "city": "New York", "state": "New York" } ], "official_url": "https://clinicaltrials.gov/study/NCT01852708" }, { "nct_id": "NCT02381457", "title": "SNP-based Microdeletion and Aneuploidy RegisTry (SMART)", "overall_status": "COMPLETED", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "22q11 Deletion Syndrome", "DiGeorge Syndrome", "Trisomy 21", "Trisomy 18", "Trisomy 13", "Monosomy X", "Sex Chromosome Abnormalities", "Cri-du-Chat Syndrome", "Angelman Syndrome", "Prader-Willi Syndrome", "1p36 Deletion Syndrome" ], "interventions": [], "intervention_types": [], "sponsor": "Natera, Inc.", "sponsor_class": "INDUSTRY", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": "48 Years", "sex": "FEMALE", "summary": "18 Years to 48 Years · Female only" }, "enrollment_count": 20960, "start_date": "2015-04", "completion_date": "2020-06", "has_results": false, "last_update_posted_date": "2021-01-29", "last_synced_at": "2026-05-22T06:43:40.736Z", "location_count": 16, "location_summary": "San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more", "locations": [ { "city": "San Francisco", "state": "California" }, { "city": "Camden", "state": "New Jersey" }, { "city": "Mount Laurel", "state": "New Jersey" }, { "city": "New Brunswick", "state": "New Jersey" }, { "city": "Garden City", "state": "New York" } ], "official_url": "https://clinicaltrials.gov/study/NCT02381457" }, { "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": "2026-05-22T06:43:40.736Z", "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" }, { "nct_id": "NCT02109770", "title": "Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA", "overall_status": "COMPLETED", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Microdeletion Syndromes", "Trisomy 21", "Trisomy 18", "Trisomy 13", "Sex Chromosome Abnormalities" ], "interventions": [], "intervention_types": [], "sponsor": "Natera, Inc.", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 216, "start_date": "2012-10", "completion_date": "2019-08", "has_results": false, "last_update_posted_date": "2019-08-26", "last_synced_at": "2026-05-22T06:43:40.736Z", "location_count": 2, "location_summary": "San Carlos, California • Philadelphia, Pennsylvania", "locations": [ { "city": "San Carlos", "state": "California" }, { "city": "Philadelphia", "state": "Pennsylvania" } ], "official_url": "https://clinicaltrials.gov/study/NCT02109770" } ] }