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NCT03688594: DEFI
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
NA trial testing NIPT Test in Genetic Disorders in Pregnancy in 60 participants. Status unknown.
22 May 2019
Quick facts
| Lead sponsor | University Hospital, Strasbourg, France |
|---|---|
| Phase | NA |
| Status | Status unknown |
| Study type | INTERVENTIONAL |
| Allocation | na |
| Design | single group |
| Masking | none |
| Primary purpose | diagnostic |
| Enrollment | 60 |
| Start date | 22 May 2018 |
| Primary completion | 22 May 2019 |
| Estimated completion | 23 May 2019 |
| Sites | 1 location across France |
Drugs / interventions tested
- NIPT Test
Conditions studied
- Genetic Disorders in Pregnancy — all drugs for Genetic Disorders in Pregnancy →
Sponsor
University Hospital, Strasbourg, France
Who can join
18 and older, any sex, with Genetic Disorders in Pregnancy. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk. The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model. Secondary objectives of the protocol are * To adapt NIPT to small DNA quantity (5-50 ng) * To adapt bioinformatics pipeline to low rate of mosaicism * To develop a tool to quantify the fetal fraction * To evaluate the robustness of the method This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT03688594
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT03688594 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by University Hospital, Strasbourg, France
- Last refreshed: 28 September 2018
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT03688594.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing