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Validation of a Test for Fetal Malformations

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ClinicalTrials.gov Identifier: NCT02965287
Recruitment Status : Completed
First Posted : November 16, 2016
Last Update Posted : March 22, 2018
Sponsor:
Collaborators:
Auckland UniServices Ltd.
Massachusetts General Hospital
Information provided by (Responsible Party):
Theoreo Srl

Brief Summary:
The investigators have developed a diagnostic test for the evaluation of the presence of fetal malformations through metabolomic analysis of maternal peripheral blood serum by chromatographic techniques and mass spectrometry, and subsequent mathematical modeling analysis of the data by means of multivariate mathematical models specifically developed for this purpose. The study aims at determining the performance parameters (specificity, sensibility, positive predictive value (PPN), negative predictive value (NPV), etc.) of the test and its applicability. To do this, the investigators will use the serum samples of the patients enrolled in New Zealand in the SCOPE Study (www.scopestudy.net), an international study conducted between years 2004-2008.

Condition or disease Intervention/treatment
Fetal Anomaly Other: Serum metabolomics profiling

Detailed Description:
The test has been developed in a case-control study. In this clinical trial the investigators will test it in a large cohort that is likely to resemble a real population. The purpose of validation is to see if the test is able to recognize the few malformed fetuses in the entire population and especially its specificity in real conditions. In addition, the investigators will check whether particular maternal conditions (such as preeclampsia, gestational diabetes, etc.) or fetal conditions (Small for gestational age, Large for gestational age, etc.) affect the test results.

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Study Type : Observational
Estimated Enrollment : 1943 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Blind Validation of a Metabolomics Based Test for the Non-invasive Screening of Fetal Malformations
Study Start Date : September 2016
Actual Primary Completion Date : December 2017
Actual Study Completion Date : December 2017

Group/Cohort Intervention/treatment
19-21 weeks' gestation

The test validation will be performed on the 1943 serum samples of pregnant women at 19-21 weeks' gestation recruited in New Zealand for the SCOPE Study.

All the samples will be analyzed to extract and purify the whole metabolome. Metabolites will be characterized through mass spectrometric techniques. These data will be interpreted by means of a bioinformatic algorithm specifically designed for this purpose.

Other: Serum metabolomics profiling
The serum samples will be used to get a metabolomic profile

14-16 weeks' gestation
Five hundred subjects at 14-16 weeks gestation were randomly selected from the whole cohort of patients. The serum samples collected at 14-16 weeks gestation will be used to test the diagnostic performance at this earlier gestational phase.
Other: Serum metabolomics profiling
The serum samples will be used to get a metabolomic profile




Primary Outcome Measures :
  1. Diagnostic test performance evaluation in dichotomic classification at 19-21 weeks' gestation [ Time Frame: 6 months ]
    Assessment of the sensitivity, likelihood ratios and performances (diagnostic accuracy) in the identification of a malformed fetus through the analysis of a serum sample from a mother at 19-21 weeks' gestation

  2. Diagnostic test performance evaluation in the individuation of the exact diagnosis of fetal malformation at 19-21 weeks' gestation [ Time Frame: 6 months ]
    Assessment of the sensitivity, likelihood ratios and performances (diagnostic accuracy) in the identification of the type of malformation through the analysis of a serum sample from a mother at 19-21 weeks' gestation


Secondary Outcome Measures :
  1. Diagnostic test performance evaluation in dichotomic classification at 14-16 weeks gestation [ Time Frame: 6 months ]
    Assessment of the sensitivity, likelihood ratios and performances (diagnostic accuracy) in the identification of a malformed fetus through the analysis of a serum sample from a mother at 19-21 weeks' gestation

  2. Diagnostic test performance evaluation in the individuation of the exact diagnosis of fetal malformation at 14-16 weeks gestation [ Time Frame: 6 months ]
    Assessment of the sensitivity, likelihood ratios and performances (diagnostic accuracy) in the identification of the type of malformation through the analysis of a serum sample from a mother at 14-16 weeks gestation


Biospecimen Retention:   Samples Without DNA
Serum samples


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
The study population is the ones selected by the SCOPE Study in New Zealand
Criteria

Inclusion criteria were the ones designed by SCOPE Study:

- Nulliparous women, with a singleton pregnancy, between 14wks, 0 days and 16wks, 6 days gestation who give informed consent to participate in SCOPE.

Exclusion criteria were the ones designed by SCOPE Study:

  • Unsure of last menstrual period (LMP)
  • Unwilling to have ultrasound scan at ≤20 weeks
  • ≥3 miscarriages
  • ≥3 terminations
  • Essential hypertension treated pre-pregnancy
  • Moderate-severe hypertension at booking ≥160/100 mmHg
  • Diabetes
  • Renal disease
  • Systemic lupus erythematosus
  • Anti-phospholipid syndrome
  • Sickle cell disease
  • HIV positive
  • Major uterine anomaly
  • Cervical suture
  • Knife cone biopsy
  • Ruptured membranes now
  • Long term steroids
  • Treatment low-dose aspirin
  • Treatment calcium (>1g/24h)
  • Treatment eicosapentanoic acid (fish oil)
  • Treatment vitamin C ≥1000 mg & Vit E ≥400 iu
  • Treatment heparin/low molecular weight heparin

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02965287


Locations
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Italy
Theoreo srl
Montecorvino Pugliano, Salerno, Italy, 84090
Sponsors and Collaborators
Theoreo Srl
Auckland UniServices Ltd.
Massachusetts General Hospital
Investigators
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Principal Investigator: Jacopo Troisi, Dr. CEO

Publications:
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Responsible Party: Theoreo Srl
ClinicalTrials.gov Identifier: NCT02965287     History of Changes
Other Study ID Numbers: MV-01
First Posted: November 16, 2016    Key Record Dates
Last Update Posted: March 22, 2018
Last Verified: October 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Test validation of the screening technique will be conducted blinded. The investigators will have access only to the serum samples identified by their unique ID. At the end of the analytical phase, the database containing results will be locked. The database will be transferred to an independent investigator (Prof. Alessio Fasano at Mass General Hospital for Children, Boston, USA) for data analysis. At the same time, information related to pregnancy outcomes (in terms of presence or absence of fetal anomaly) will be transferred from the University of Auckland to the Mass General Hospital for Children, which will provide the blind break and will procced to the estimation of the test performance.
Additional relevant MeSH terms:
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Congenital Abnormalities