EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)
ConditionSingle Gene NIPT
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorNatera, Inc.
About this trial
The purpose of this research is to develop and validate a single gene Non-Invasive Prenatal Test. The development of this investigational single-gene noninvasive prenatal testing (sgNIPT) for conditions such as cystic fibrosis (CF), spinal muscular atrophy (SMA), Sickle cell disease, alpha thalassemia (a-thalassemia) and beta thalassemia (b-thalassemia) could provide information about the possibility that a child will be born with a serious health condition, in some cases in the absence of reproductive partner screening.
In order to develop a test for this purpose, investigators will collect blood samples and medical information from pregnant women who have pregnancies at higher risk for single gene disorders, such as those who are carriers for these conditions or affected by these conditions themselves, medical data from their reproductive partners in some cases, and either genetic testing results or a cheek swab sample from the newborn(s).
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Age 18 or older at the time of informed consent
Maternal participant: Pregnant and blood draw at ≥ 9 weeks gestational age (GA)
Maternal participant is positive for a single-gene disorder and/or there are prenatal ultrasound findings suggestive for a fetal single-gene disorder, including but not limited to the genes listed in the primary and secondary objectives
Both maternal and reproductive partner (paternal) status are positive for the same single-gene disorder OR
Disqualifiers
Reproductive partner found to not be positive for the same autosomal recessive genetic disorder as the pregnant maternal carrier, or vice versa
Surrogate gestation or egg donor pregnancy
Negative preimplantation genetic testing for the single-gene disorder identified in one or both parents
Trial population
Natera sgNIPT is intended for use in pregnant people whose fetus/ fetuses are identified as at increased risk for a single gene disorder when there is no reproductive partner (paternal) screening available or when there is positive reproductive partner screening but prenatal diagnostic testing is not an option or when there is a concern for single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).
Trial design
Design model
Case-only
Time perspective
Prospective
Treatments tested in this trial
Single-gene Noninvasive Prenatal Testing (sgNIPT)
DeviceNatera sgNIPT is intended for use in pregnant people whose 'fetus/ fetuses are identified as at increased risk for a single gene disorder when there is no reproductive partner (paternal) screening available or when there is positive reproductive partner screening, but prenatal diagnostic testing is not an option or when there is concern for a single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).
Treatment groups
4,000 Participants
are divided into 1 treatment groupGroup A: Increased Risk for Single Gene Disorder1 intervention
Trial outcomes
Primary outcomes
1
Performance of sgNIPT assay in the detection of primary four autosomal recessive disorders
The sgNIPT assay call, high risk or low risk; will be compared to the genetic outcome of the fetus/ fetuses Affected; or Not Affected; as determined by prenatal genetic testing, post-natal genetic testing or genetic testing performed on the newborn cheek swab sample. Sensitivity, PPV, NPV, and no call rates will be assessed.
Time frame
Following the development of the sgNIPT assay, approximately 2 years after the launch of the studySecondary outcomes
1
Performance of sgNIPT assay in the detection of single gene disorders other than the primary four
The sgNIPT assay call, high risk or low risk; will be compared to the genetic outcome of the fetus/ fetuses Affected; or Not Affected; as determined by prenatal genetic testing, post-natal genetic testing or genetic testing performed on the newborn cheek swab sample. Sensitivity and PPV pooled across single gene disorders other than the four primary disorders
Time frame
Following the development of the primary disorder assay, approximately 2.5 years after the launch of the studySponsors and contacts
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Source ClinicalTrials.gov