{ "data": { "asOf": "2026-10-30T22:27:23.363Z", "dedupMethod": "exact cross-registry identifier matching; probabilistic = review only", "byRegistry": { "clinicaltrials_gov": 1 }, "canonicalTrial": { "canonicalId": "NCT06147414", "title": "Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders", "scientificTitle": "Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders", "status": "recruiting", "studyType": "observational", "phase": [], "conditions": [ "Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including", "Sickle Cell Disease", "Cystic Fibrosis", "Fragile X Syndrome", "Proximal Spinal Muscular Atrophy", "Myotonic Dystrophy", "Muscular Dystrophy, Duchenne", "Muscular Dystrophy, Becker", "Neurofibromatosis-Noonan Syndrome", "Huntington Disease", "Hemophilia A", "Hemophilia B", "MODY2 Diabetes", "X-Linked Hydrocephalus", "Autosomal Recessive Polycystic Kidney Disease" ], "interventions": [ { "name": "Blood sample", "type": "BIOLOGICAL", "description": "A blood sample (50 ml) will be taken in care of prenatal diagnosis and 40 ml will be used for study.\n\nThe 40 mL of blood needed for the research will be collected on BCT tubes (4 tubes).\n\nDuring the study, in centers, the plasma samples will be stored at room temperature and will be sent to the laboratory within 24 hours (no centrifugation in centers).\n\nThe plasma samples will be then temporarily stored at -80°C in each co-investigating laboratory under the supervision of lab supervisor until the analysis. cfDNA will be extracted from the whole plasma sample before each sequencing run and stored à +4°C until the cfDNA sequencing." } ], "sponsor": { "name": "Assistance Publique - Hôpitaux de Paris", "type": "OTHER" }, "locations": [ { "city": "Paris", "country": "France", "facility": "Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique" } ], "outcomes": { "other": [], "primary": [ "% of affected/unaffected fetuses that were correctly classified as affected/unaffected", "% of inconclusive results" ], "secondary": [ "cffDNA concentration in maternal plasma", "sequencing coverage", "Quality scores", "Optimal window in terms of gestational age for maternal sampling", "Simplicity of implementation", "Turnaround time", "Estimated delay for result in standard care diagnosis condition" ] }, "eligibility": { "sex": "FEMALE", "criteria": "Inclusion Criteria:\n\n* pregnant woman with 9 weeks of amenorrhea or more\n* singleton pregnancy\n* undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK\n* germinal pathogenic paternal and/or maternal mutations previously identified\n* age 18 years old or over\n* signing an informed consent\n\nExclusion Criteria:\n\n* at risk of SGD involving a de novo pathogenic mutation in a previous child\n* woman under legal protection", "minimumAge": "18 Years", "healthyVolunteers": false }, "enrollment": { "type": "ESTIMATED", "count": 550 }, "startDate": "2024-10-23", "completionDate": "2028-06-01", "lastUpdated": "2026-10-21T00:00:00.000Z", "firstPosted": "2023-11-27T00:00:00.000Z", "resultsAvailable": false, "sourceRegistries": [ "clinicaltrials_gov" ], "sourceUrls": [ "https://clinicaltrials.gov/study/NCT06147414" ] }, "identifiers": [ { "idType": "nct", "idValue": "NCT06147414", "declaredBy": "clinicaltrials_gov" } ], "sourceRecords": [ { "registry": "clinicaltrials_gov", "registryName": "ClinicalTrials.gov", "license": "public-domain", "sourceId": "NCT06147414", "sourceUrl": "https://clinicaltrials.gov/study/NCT06147414", "sourceStatus": "RECRUITING", "retrievedAt": "2026-10-28T04:32:26.129Z", "payloadSha256": "e28b33ba2d5ebf7dca82cf77de9a2876a507e92447c1d237c4ed1eea8752ee9f", "piiRedacted": true } ], "citation": { "canonicalId": "NCT06147414", "sources": [ { "registry": "clinicaltrials_gov", "registryName": "ClinicalTrials.gov", "license": "public-domain", "sourceId": "NCT06147414", "verifyAt": "https://clinicaltrials.gov/study/NCT06147414", "retrievedAt": "2026-10-28T04:32:26.129Z", "payloadSha256": "e28b33ba2d5ebf7dca82cf77de9a2876a507e92447c1d237c4ed1eea8752ee9f", "text": "ClinicalTrials.gov, record NCT06147414 (https://clinicaltrials.gov/study/NCT06147414), retrieved 2026-10-28, licence: public-domain." } ], "crossRegistry": false, "dedupMethod": "exact cross-registry identifier matching; probabilistic = review only", "text": "Trial NCT06147414, registered in ClinicalTrials.gov, retrieved 2026-10-28. 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