EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)

Обзор

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).

Подробное описание

Natera sgNIPT is intended for use in pregnant people whose fetus/ fetuses are identified as at increased risk for a single gene disorder, such as one of the disorders below, 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). Disorders include:

CF (CFTR) SMA (SMN1) Alpha-thalassemia (HBA1/HBA2) Beta-hemoglobinopathies including sickle cell disease (HBB)

Вмешательства

• Устройство Single-gene Noninvasive Prenatal Testing (sgNIPT)
  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 concern for a single-gene disorder in the fetus/ fetuses irrespective of carrier status (e.g., based on fetal ultrasound findings).

Первичные конечные точки

• Performance of sgNIPT assay in the detection of primary four autosomal recessive disorders [Срок оценки: Following the development of the sgNIPT assay, approximately 2 years after the launch of the study]

Вторичные конечные точки (1)

• Performance of sgNIPT assay in the detection of single gene disorders other than the primary four [Срок оценки: Following the development of the primary disorder assay, approximately 2.5 years after the launch of the study]

Критерии участия

Критерии включения

• 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
• Meet the criteria for one of the following:

• Both maternal and reproductive partner (paternal) status are positive for the same single-gene disorder OR
• A commercially available single-gene NIPT has been performed as part of clinical care and is reported as increased risk for an affected fetus/fetuses OR Maternal status is positive for one or more single-gene disorders and reproductive partner status is unknown OR
• Prenatal ultrasound findings are suggestive of a fetal single-gene disorder (autosomal dominant, autosomal recessive, or X-linked condition) and enrollment is approved by the medical monitor.
• Willing to permit release of neonatal health information and the performance of a newborn cheek swab within 6 months following delivery
• Willing to sign informed consent and comply with study procedures

Критерии исключения

• 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Только случаи

Центры проведения

США · 18 центров

• Valley Perinatal — Glendale
• Cedars Sinai Prenatal Diagnosis Center — Los Angeles
• Center for Fetal Medicine and Womens Ultrasound — Los Angeles
• Natera Inc — San Carlos
• University of California San Francisco — San Francisco
• Orlando Health Inc. (Winnie Palmer Hsopital) — Orlando
• UMMC WH Univerity Center For Fetal Medicine — Jackson
• Capital Health — Lawrenceville
• … и ещё 10 центров

Идентификаторы

NCT: NCT06808880 · 23-075-WH

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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