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Status unknownNCT04437992SAPERERUpdated Jul 24, 2020

Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)

An observational study in Autosomal Aneuploidy, sponsored by Azienda Usl di Bologna. Status unknown at 1 site in Italy. Open to female participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2020-07-24.

Sponsored by Azienda Usl di Bologna · Observational

The sponsor has not verified this record recently (last verified Jun 2020), so the status shown — last known as Recruiting — may be out of date.
Study type
Observational
Model
Other
Time perspective
Prospective
Enrollment
7,000
Ages
18 Years and older
Sex
Female
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Study summary

The study is promoted by the Emilia Romagna Region which identified in the Bologna AUSL the coordinating center (Unità Operativa Complessa Laboratorio Unico Metropolitano, LUM, Maggiore Hospital). The medical genetics centers, participating in the technical-scientific coordination group of assessment (resolution No. 1894, 4/11/2019), the family counseling centers and the region prenatal hospital clinics are involved as collaborative experimental centers.

Currently, 14,400 combined tests are carried out in the Emilia Romagna Region every year.

As a result offering the new non-invasive NIPT test, it is estimated that the number of participants in the screening program will increase by up to 20,000/year.

The study will collect data on the women who will access the combined test in the first 9 months of the protocol and join the enrollment.

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Conditions studied

  • Autosomal Aneuploidy

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Keywords

  • aneuploidies, down syndrome, Edwards syndrome, Patau syndrome
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Who can participate

Ages eligible
18 Years and older
Sexes eligible
Female
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics.

Inclusion criteria

  • Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics.
  • Women able to understand the information, participate in pre-test counseling and provide informed consent.

Exclusion criteria

Exclusion Criteria:

  • Women under the age of 18 and/or unable to give informed consent
  • pregnancies with more than two twins
  • certain evidence of initial twinning, with subsequent disappearance of one of the twins (vanishing twin)
  • known maternal chromosome mosaicisms present in the mother and involving the chromosomes subject to investigation
  • presence of neoplasia in pregnant women
  • previous allogeneic transplantation in pregnant women
  • immunotherapy, radiotherapy or hemotransfusion performed in the pregnant woman within the previous 3 months.
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Study design

Observational model
Other
Time perspective
Prospective
Enrollment
7,000 participants (estimated)
Patient registry
No

Groups and cohorts

  • Pregnant women

    * Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics. * Women able to understand the information, participate in pre-test counseling and provide informed consent.

    Genetic: NIPT

Interventions

  • GeneticNIPT

    The test, which requires two 10 ml tubes of blood, will be performed simultaneously with the chemical biomarkers of the combined test at 10-12 weeks of gestation

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What researchers measure

Primary outcomes

  1. NIPT

    Establish in which percentage invasive tests (amniocentesis and chorionic villus sampling) would be avoidable by replacing routine screening methods (i.e. combined test) with non-invasive prenatal test (NIPT).

    Time frame: 9 months

Secondary outcomes

  1. Percentage of NIPT

    Establish a percentage of NIPT with inconclusive results

    Time frame: 9 months

  2. diagnostic performance

    Verify the diagnostic performance of the Vanadis NIPT method by verification of sensitivity, specificity, and predictive power in comparison to the combined test currently in use

    Time frame: 9 months

  3. Detection of Chromosomal Abnormalities

    Evaluate the added value of nuchal translucency for the detection of Chromosomal Abnormalities other than T21, T18, T13

    Time frame: 9 months

  4. TAT (turnaround time)

    Evaluate TAT (turnaround time) of the NIPT and operability of the technology adopted by the laboratory

    Time frame: 9 months

  5. Validate NIPT organizational infrastructure

    Validate the organizational infrastructure for the NIPT execution in the area outside of the reference laboratory.

    Time frame: 9 months

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Study locations

1 of 1 sites recruiting
  • Regione Emilia Romagna
    Bologna, Italy
    Recruiting
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References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

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Registry details

Key details

Study ID
NCT04437992
Lead sponsor
Azienda Usl di Bologna
Responsible party
Sponsor
First posted
Jun 18, 2020
Start date
Jan 27, 2020
Primary completion
Apr 27, 2021 (estimated)
Completion
Apr 27, 2021 (estimated)
Last update
Jul 24, 2020

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Jun 2020. You cannot join it, but the record below documents what was studied.

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