RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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).

Official Title

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

Quick Facts

Study Start:2024-01-25
Study Completion:2026-02
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06808880

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Age 18 or older at the time of informed consent
  2. 2. Maternal participant: Pregnant and blood draw at ≥ 9 weeks gestational age (GA)
  3. 3. 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
  4. 4. Meet the criteria for one of the following:
  5. * Both maternal and reproductive partner (paternal) status are positive for the same single-gene disorder OR
  6. * 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
  7. * 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.
  8. 5. Willing to permit release of neonatal health information and the performance of a newborn cheek swab within 6 months following delivery
  9. 6. Willing to sign informed consent and comply with study procedures
  1. 1. Reproductive partner found to not be positive for the same autosomal recessive genetic disorder as the pregnant maternal carrier, or vice versa
  2. 2. Surrogate gestation or egg donor pregnancy
  3. 3. Negative preimplantation genetic testing for the single-gene disorder identified in one or both parents

Contacts and Locations

Study Contact

Jeffrey Meltzer
CONTACT
844-778-4700
expandclinops@natera.com

Study Locations (Sites)

University of Alabama Birmingham
Birmingham, Alabama, 35233
United States
Valley Perinatal
Glendale, Arizona, 85304
United States
Cedars Sinai Prenatal Diagnosis Center
Los Angeles, California, 90048
United States
Center for Fetal Medicine and Womens Ultrasound
Los Angeles, California, 90048
United States
UCLA Department of Obstetrics and Gynecology
Los Angeles, California, 90095
United States
Pediatrix -Perinatal Associates of Sacramento
Sacramento, California, 95816
United States
Natera Inc
San Carlos, California, 94070
United States
University of California San Francisco
San Francisco, California, 94158
United States
Orlando Health Inc. (Winnie Palmer Hsopital)
Orlando, Florida, 32806
United States
Maternal Fetal Medicine Associates of Maryland
Rockville, Maryland, 20850
United States
UMMC WH Univerity Center For Fetal Medicine
Jackson, Mississippi, 39216
United States
Capital Health
Lawrenceville, New Jersey, 08648
United States
Rutgers Robert Wood Johnson Medical School
New Brunswick, New Jersey, 08901
United States
Northwell (Northshore/LIJ)
New Hyde Park, New York, 11040
United States
NYU Langone
New York, New York, 10022
United States
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
United States
Weill Medical College of Cornell University
New York, New York, 10065
United States
Lescale Maternal Fetal Medicine
Poughkeepsie, New York, 12601
United States
University of Rochester
Rochester, New York, 14642
United States
Austin Maternal Fetal Medicine/St. Davids Healthcare
Austin, Texas, 78758
United States
University of Texas Medical Branch (UTMB)
Galveston, Texas, 77555
United States
PEDIATRIX Medical Services, Inc. Master + Houston
Stafford, Texas, 77477
United States

Collaborators and Investigators

Sponsor: Natera, Inc.

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-01-25
Study Completion Date2026-02

Study Record Updates

Study Start Date2024-01-25
Study Completion Date2026-02

Terms related to this study

Keywords Provided by Researchers

  • single gene NIPT

Additional Relevant MeSH Terms

  • Single Gene NIPT