NCT04155086

Brief Summary

In the plasma of any pregnant patient circulates DNA (also called circulating free DNA). The vast majority of this circulating free DNA is of maternal origin and about 10% is of fetal origin (fetal circulating free DNA). This percentage of fetal circulating free DNA (corresponding to the fetal fraction) increases with gestation. The pathophysiological hypothesis of this research is that there is a change in the fetal fraction (FF) of fetal circulating free DNA in patients with autoimmune disease (AID). The underlying mechanism would be a massive release of maternal cfDNA responsible for a dilution of fetal cfDNA. This dilution of fetal cfDNA would result in a decrease in the estimate of the foetal fraction of circulating free DNA. However, when the foetal fraction of circulating free DNA is insufficient (4% most often), screening for Trisomy 21 (T21) by fetal circulating free DNA becomes uninterpretable (NC for "non-contributory" result), and cannot be used to assess the risk of T21. In this case, the dose of fetal circulating free DNA can be performed again after 15 days, as the amount of fetal circulating free DNA increases with gestation. In a small number of cases the result will remain NC. As tests using DNA are becoming more widespread, it is important to prospectively evaluate the results of these tests in the population of patients with AID, which represents about 3 to 5% of pregnant women.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
320

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Dec 2019

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 17, 2019

Completed
2 months until next milestone

First Posted

Study publicly available on registry

November 7, 2019

Completed
24 days until next milestone

Study Start

First participant enrolled

December 1, 2019

Completed
1 month until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2020

Completed
2.4 years until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2022

Completed
Last Updated

November 7, 2019

Status Verified

September 1, 2019

Enrollment Period

1 month

First QC Date

September 17, 2019

Last Update Submit

November 4, 2019

Conditions

Autoimmune DiseasesPregnancy

Keywords

autoimmune diseasepregnancyfree fetal DNA circulant

Outcome Measures

Primary Outcomes (1)

  • The number of inconclusive results of the free circulating fetal DNA test

    The detection of the risk of fetal trisomy 21 by 2 blood tests : free circulating analysis fetal DNA and first trimester serum screening. A result of the free fetal DNA circulant test is rendered as inconclusive when the fetal fraction is strictly less than 4% or the result of the z-scores is not interpretable

    maximum 15 days after inclusion if the result of the initial analysis is inconclusive. Or maximum 30 days after inclusion if the analysis is realized a second time

Secondary Outcomes (4)

  • Performance (ability to detect the risk) of fetal DNA for T21 screening in the auto immune disease population. and To compare them with the non-auto immune disease population.

    maximum 15 days after inclusion if the result of the initial analysis is inconclusive, or maximum 30 days after inclusion if the analysis is realized a second time

  • Performance (ability to detect the risk) of the combined first trimester serum screening for T21 screening and compare it with those of fetal DNA in auto immune disease population.

    maximum 15 days after inclusion if the result of the initial analysis is inconclusive, or maximum 30 days after inclusion if the analysis is realized a second time

  • Distribution of fetal fractions according to the presence and severity of maternal autoimmune pathology

    maximum 15 days after inclusion if the result of the initial analysis is inconclusive, or maximum 30 days after inclusion if the analysis is realized a second time

  • Association between fetal fraction and the occurrence of vascular complications of pregnancy in both groups with and without auto immune disease.

    maximum 15 days after inclusion if the result of the initial analysis is inconclusive, or after inclusion if the analysis is realized a second time

Study Arms (2)

Exposed group (patient with an autoimmunise disease)

EXPERIMENTAL

Any patient with an autoimmune disease followed at one of the 14 centres who wants to be screened for T21.

Biological: the detection of the risk of fetal trisomy 21 by blood tests : free fetal DNA circulant analysis

Non Exposed group (patient without an autoimmunise disease)

OTHER
Biological: the detection of the risk of fetal trisomy 21 by blood tests : free fetal DNA circulant analysis

Interventions

the detection of the risk of fetal trisomy 21 by blood tests : free fetal DNA circulant analysisBIOLOGICAL

The detection of the risk of fetal trisomy 21 by blood tests by 2 tests : free fetal DNA circulant analysis and first trimester serum screening

Exposed group (patient with an autoimmunise disease)Non Exposed group (patient without an autoimmunise disease)

Eligibility Criteria

Age18 Years+
Sexfemale(Gender-based eligibility)
Gender Eligibility Detailspregnant population
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Patients in the exposed group:
  • Single-fetal pregnancy with a term between 11 and 13-6 weeks of amenorrhea (SA) from spontaneous pregnancy or by medical assistance to procreation.
  • Age ≥ 18 years
  • Affiliated with a social security or beneficiary scheme
  • Desire for natal screening of T21, not yet realized
  • Patient with a condition on the following list: \[see Chapter 7.2\]
  • Patients in the unexposed group:
  • Single-fetal pregnancy with a term between 11 and 13-6 weeks of amenorrhea (SA) from spontaneous pregnancy or by medical assistance to procreation.
  • Age ≥ 18 years
  • Affiliated with a social security or beneficiary scheme
  • Desire for natal screening of T21, not yet realized
  • No pathology that meets the list mentioned in the above section
  • Clinically asymptomatic patient with no clinical symptoms suggestive of AID: arthralgias, skin or mucous disease, dry syndrome, Raynaud syndrome, purpura.
  • Patient respecting frequency pairing

You may not qualify if:

  • BMI \> 35 kg/cm2
  • Multiple pregnancy
  • No first trimester ultrasound (between 11 and 13-6 SA)
  • Screening for unwanted T21
  • Patients already included in an interventional research protocol
  • Morphological abnormalities on first trimester ultrasound and/or nucal clarity - 3.5mm
  • Patient under the protection of justice

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Antoine Béclère

Clamart, Île-de-France Region, France

Location

MeSH Terms

Conditions

Autoimmune Diseases

Condition Hierarchy (Ancestors)

Immune System Diseases

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 17, 2019

First Posted

November 7, 2019

Study Start

December 1, 2019

Primary Completion

January 1, 2020

Study Completion

June 1, 2022

Last Updated

November 7, 2019

Record last verified: 2019-09

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)