PerkinElmer said today it is partnering with Women & Infants Hospital (WIH) of Rhode Island, a Care New England hospital, in a clinical trial designed to assess the company’s Vanadis noninvasive prenatal testing (NIPT) solution.
Vanadis NIPT—which is under development and not available for clinical use in the United States— is based on digital analysis of cell-free DNA (cfDNA). The high-throughput platform is designed to measure fetal chromosomal trisomies in maternal plasma by labeling and counting specific cfDNA fragments using imaging, which according to PerkinElmer removes the costly and data-intensive steps required for sequencing or microarray solutions.
The Vanadis NIPT platform is designed to simplify screening for trisomies 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome).
Vanadis NIPT will be assessed in the VALUE (Validation of a Lower Cost Aneuploidy Screen) trial (NCT03087357), which was recruiting patients by invitation as of June 7, according to ClinicalTrials.gov.
VALUE is designed to test samples from approximately 2,650 women—of which 2,400 will come from an average risk pregnancy population, with 250 additional high-risk women added to determine performance characteristics such as detection rates and false positive rates.
Turnaround time, associated costs, fetal sex determination, and quality metrics will also be examined, PerkinElmer said.
“Our solution is designed to make it simpler for any laboratory to provide high-precision NIPT with a fully automated platform that they can integrate into their current screening programs and workflow,” Linh Hoang M.D., Ph.D., VP, Reproductive Health, PerkinElmer, said in a statement. “By incorporating novel technology and analytics, the Vanadis assay has the potential to fundamentally change the cost structure and workflow for NIPT and give more women access to cfDNA screening.”
Fourteen enrollment sites across North America are participating in the VALUE trial. The study is being funded through a contract with WIH, which has sole responsibility for design, implementation, analyses, and reporting of results. The study’s estimated primary completion date is February 2019.
“The Vanadis technology requires less upfront investment as well as non-specialized laboratory space and technicians. It has the potential to be as efficient as current next generation sequencing offerings, yet could be cost-competitive with current serum-based screening,” added Glenn Palomaki, Ph.D., associate director of the Division of Medical Screening and Special Testing at WIH.
Dr. Palomaki is also a professor in the Department of Pathology and Laboratory Medicine at The Warren Alpert Medical School of Brown University.
PerkinElmer acquired the Vanadis NIPT technology when it bought Vanadis Diagnostics in a deal completed in 2015 and announced in January 2016. PerkinElmer paid $35.1 million for Vanadis, according to the buyer’s Form 10-K annual filing for 2015.
In March of this year, a team of researchers from Vanadis Diagnostics, a PerkinElmer Company, and London’s Harris Birthright Research Centre for Fetal Medicine published a study assessing the Vanadis NIPT assay’s analytical precision and clinical feasibility. The study indicated that samples which are challenging to analyze with low fetal-fraction can be readily detected with a limit of detection determined at <2% fetal-fraction.
A total of 286 clinical samples were analyzed, in which all 30 pregnancies affected by trisomy 21 were classified correctly.
“This method has the potential to make cost effective NIPT more widely available with more women benefiting from superior detection and false positive rates,” Olle Ericsson, Ph.D., co-founder and managing director of Vanadis, and colleagues, concluded in “Imaging single DNA molecules for high precision NIPT,” published March 14 in the journal Scientific Reports.
PerkinElmer announced the Vanadis NIPT study during the International Conference on Prenatal Diagnosis and Therapy (ISPD), being held in Antwerp, Belgium, from July 8-11.