# Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

> **NCT06147414** · — · RECRUITING · sponsor: **Assistance Publique - Hôpitaux de Paris** · enrollment: 550 (estimated)

## Conditions studied

- 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

- **BIOLOGICAL:** Blood sample

## Key facts

- **NCT ID:** NCT06147414
- **Lead sponsor:** Assistance Publique - Hôpitaux de Paris
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** RECRUITING
- **Start date:** 2024-10-23
- **Primary completion:** 2027-05
- **Final completion:** 2027-05
- **Target enrollment:** 550 (ESTIMATED)
- **Last updated:** 2026-04-23

## Collaborators

- [object Object]

## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT06147414

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT06147414, "Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders". Retrieved via AI Analytics 2026-06-25 from https://api.ai-analytics.org/clinical/NCT06147414. Licensed CC0.

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