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NIPD on CFTC for Triplet Repeat Diseases

NCT03087526 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 60

Last updated 2025-10-03

No results posted yet for this study

Summary

The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) 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, Steinert Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia (SCA) 1, 2 and 3.

Conditions

  • Non Invasive Prenatal Diagnosis

Interventions

GENETIC

Non invasive prenatal diagnosis

Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

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

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Months
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-06-12
Primary Completion
2020-04-01
Completion
2020-04-01

Countries

  • France

Study Locations

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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 NCT03087526 on ClinicalTrials.gov