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Search / Trial NCT06147414

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Nov 24, 2023

Trial Information

Current as of July 24, 2025

Recruiting

Keywords

Gene Hbb Gene Cftr Gene Fmr1 Gene Smn1 Gene Dmpk Gene Dmd Gene Nf1 Gene Htt Gene F8 Gene F9 Gene Gck Gene L1 Cam Gene Pkhd1

ClinConnect Summary

This clinical trial is studying a new way to check for certain inherited genetic disorders in unborn babies without the need for invasive procedures like amniocentesis. The researchers are focusing on a method called non-invasive prenatal diagnosis (NIPD), which analyzes small pieces of fetal DNA found in the mother's blood. This test can be done as early as nine weeks into the pregnancy and aims to provide a safe and accurate way to diagnose single-gene disorders, such as sickle cell disease and cystic fibrosis, without the risks associated with traditional testing methods.

To participate in the trial, pregnant women who are at least 18 years old and have been pregnant for at least nine weeks may be eligible, especially if they have a family history of specific genetic disorders. Participants will need to provide consent and may undergo some additional testing. The goal of this trial is to make this advanced genetic testing available to more families and to improve the accuracy of prenatal diagnoses for various genetic conditions, which can help in making informed decisions during pregnancy.

Gender

FEMALE

Eligibility criteria

  • Inclusion Criteria:
  • 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, ATP7A 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
  • Exclusion Criteria:
  • at risk of another SGD
  • at risk of SGD involving a de novo pathogenic mutation in a previous child
  • woman under legal protection

About Assistance Publique Hôpitaux De Paris

Assistance Publique - Hôpitaux de Paris (AP-HP) is a leading public hospital system in France, renowned for its commitment to healthcare excellence and innovative medical research. As a prominent clinical trial sponsor, AP-HP plays a pivotal role in advancing medical knowledge and improving patient care through rigorous scientific investigations across a wide range of therapeutic areas. With a focus on collaboration and interdisciplinary approaches, AP-HP leverages its extensive network of hospitals and expert clinicians to facilitate high-quality clinical trials that adhere to the highest ethical and regulatory standards, ultimately aiming to translate research findings into tangible health benefits for diverse patient populations.

Locations

Paris, , France

Patients applied

0 patients applied

Trial Officials

Juliette NECTOUX, MD,PhD

Principal Investigator

Assistance Publique - Hôpitaux de Paris

Thierry BIENVENU

Study Director

Assistance Publique - Hôpitaux de Paris

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported