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NCT04698551

NIPD on cffDNA for Triplet Repeat Diseases

Status unknown Last updated 7 January 2021
What this trial tests

trial testing Non invasive prenatal diagnosis in Myotonic Dystrophy 1 in 36 participants. Status unknown.

Timeline
1 September 2020
Primary endpoint
1 September 2023
1 December 2023

Quick facts

Lead sponsorUniversity Hospital, Montpellier
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment36
Start date1 September 2020
Primary completion1 September 2023
Estimated completion1 December 2023
Sites1 location across France

Drugs / interventions tested

Conditions studied

Sponsor

University Hospital, Montpellier

Who can join

18 Months and older, any sex, with Myotonic Dystrophy 1 or Huntington Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The purprose of this study is to develop and validate an analytical NIPD test for triplet repeat disesases by NGS analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington's disease, Myotonic dystrophy, Fragile X syndrome.. A comparison of two 3rd generation long fragment DNA sequencing techniques will be performed. These methods are based of the phasing techniques of parental haplotypes without the proband.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
    Liautard-Haag C, Durif G, VanGoethem C, Baux D, et al · · 2022 · cited 4× · PMID 35794169 · DOI 10.1038/s41598-022-15307-2

Verify or expand the search:

Other trials of Non invasive prenatal diagnosis

Trials testing the same drug.

Other recruiting trials for Myotonic Dystrophy 1

Currently open trials in the same condition.

Other University Hospital, Montpellier trials

Trials by the same sponsor.

Verify against primary sources

Data sources for this page

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