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NIPD on cffDNA for Triplet Repeat Diseases

NCT04698551 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 36

Last updated 2021-01-07

No results posted yet for this study

Summary

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.

Conditions

  • Myotonic Dystrophy 1
  • Huntington Disease
  • Fragile X Syndrome

Interventions

GENETIC

Non invasive prenatal diagnosis

Search for the familial mutation involved in DPN requests from phasing of parental haplotypes by 3rd generation long-fragment DNA sequencing techniques coupled with targeted sequencing of free circulating DNA from maternal plasma.

Sponsors & Collaborators

  • Agence de La Biomédecine

    collaborator OTHER_GOV

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Marie Claire VINCENT, PhD-PharmaD · University Hospital, Montpellier

Eligibility

Min Age
18 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-09-01
Primary Completion
2023-09-01
Completion
2023-12-01

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04698551 on ClinicalTrials.gov