NCT06147414Recruiting
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Source: ClinicalTrials.gov · Last updated 21 Oct 2026
Brief summary (registry, in English)
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 550 (estimated)
- First submitted
- 18 Sept 2023
- Start date
- 23 Oct 2024
- Primary completion date
- May 2027
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Diseases
- Spinal muscular atrophy, Polycystic kidney disease, Haemophilia, Cystic fibrosis, Duchenne muscular dystrophy, Sickle cell disease, Huntington's disease
- NCT number
- NCT06147414
What you commit to
- Study type: Observational
- Planned participants: 550
- From 23 Oct 2024 to the primary completion date, May 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- at risk of SGD involving a de novo pathogenic mutation in a previous child
Other
- woman under legal protection
Who the study is looking for
- pregnant woman with 9 weeks of amenorrhea or more
- singleton pregnancy
- 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
- germinal pathogenic paternal and/or maternal mutations previously identified
- age 18 years old or over
- signing an informed consent
Age in the registry: 18 years to - · Sex: Female · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique Coordinator of this site? Confirm its status | Paris | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.