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ARCEDI Biotech Developing Cystic Fibrosis, Cancer Tests; Plans to Expand NIPT Offering

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NEW YORK – Danish rare cell diagnostics firm ARCEDI Biotech is developing multiple new applications related to noninvasive prenatal testing while it plans to begin offering its flagship Evita Test beyond its home market.

The Vejle-based company is also engaged in a project focused on diagnosing cancers from circulating tumor cells and is in the process of migrating its tests from array comparative hybridization to next-generation sequencing.

Ripudaman Singh, ARCEDI's chief technology officer, recently provided an update on his company, noting its ambitions to broaden not only its test menu but also its geographic presence.

ARCEDI, which stands for Advanced Rare Cell Diagnostics, currently has two offerings on the market in Denmark, the Evita Test Complete and the Evita Test Gender, both of which rely on an internally developed approach that can provide a whole-genome analysis, using array CGH, of fetal cells obtained from a mother's blood sample.

The company claims the test is the only NIPT on the market that examines all of a fetus's chromosomes. Its Evita Test Gender offering relies on the same approach to test fetal DNA for the presence or absence of Y-chromosome-specific genes. The test can be run at week 10 of a pregnancy, but Danish legislation mandates results be unveiled only after the 12th week.

According to Singh, both tests are currently available via 14 clinics, three-quarters of them ultrasound or midwife clinics and a quarter in vitro fertilization clinics. "New clinics are being enrolled on a regular basis," Singh added, stating that the success rate of the Evita Test in terms of providing a result to pregnant women is currently about 98 percent.

There is room for growth in Denmark, a nation of 5.8 million people with around 60,000 births per year. Singh said that there are 40 IVF clinics in the country, and about 70 midwife or ultrasound clinics. But the company is eyeing expansion into adjacent markets in Scandinavia, with Sweden and Norway as its most likely next targets.

"We are exploring the possibility of expanding the test to other European countries, starting with Scandinavia," Singh said. He added that the company is already in discussions with fetal medicine experts and other stakeholders in Scandinavia regarding Evita Test Complete and expects expansion to these adjacent markets could happen "in the near future."

ARCEDI began offering Evita Test Complete in Denmark last year, positioning it as an alternative to entrenched prenatal testing approaches like chorionic villus sampling, which is based on obtaining placenta tissue samples with a needle and can result in miscarriage. Since its launch, the company has used array CGH for the analysis, using Agilent Technologies arrays.

The company has existed since 2005, and its technology was developed in partnership with Aarhus University Hospital. According to Singh, ARCEDI's headcount is currently 32 employees, and it is owned by Bagger-Sørensen & Co., a family-owned Danish investment company based in Vejle.

ARCEDI's technology uses antibodies against cell surface markers to enrich and stain extravillous trophoblasts originating from the placenta from about 30 ml of blood. First, red blood cells are lysed and removed. Then, using magnetic activated cell sorting, white blood cells are removed and fetal cells enriched, leaving behind only fetal cells, Singh said.

Fetal cells are then sorted individually using fluorescence-activated cell sorting and confirmed by short tandem repeat analysis after whole-genome amplification. Part of the amplified DNA from fetal cells is then used for analysis, either after pooling it from different cells or using DNA from individual cells. The test takes about 10 days to perform from blood draw to reporting of the results, and the recommended end user price is DKK 12,000 ($1,680).

Patients currently pay for the test out of pocket. The company's only direct competitor is Luna Genetics, a Houston-based outfit that has also developed and launched a cell-based, noninvasive prenatal test. When asked about rivals, Singh said that ARCEDI's fetal cell-specific markers and technology for isolating fetal cells "put us in a pretty comfortable position."

Line Dahl Jeppesen, a graduate student at ARCEDI, gave a presentation on the company's tests at the annual World Congress on Controversies in Preconception, Preimplantation, and Prenatal Genetic Diagnosis (CoGEN), which was held virtually earlier this month. In it, she described a prenatal cystic fibrosis test in development as well as multiple other applications in the pipeline. In Denmark, one person in 33 is a CF carrier, Jeppesen noted.

Singh said ARCEDI has carried out multiple validation studies on its cystic fibrosis test, which screens for variants in the CFTR gene using DNA obtained from fetal cells. He described the assay as being in the "product development phase."

He also said that the company has collaborated with NimaGen, a Dutch sequencing company based in Nijmegen, on its CF test. The two have developed and validated a sequencing-based test relying on reverse-complement PCR that targets the 50 most common CFTR variants.

"We took advantage of their experience with the RC-PCR technology and our expertise on single-cell analysis to develop a simple, safe, and fast method for detection of disease-causing variants by cell-based NIPT," said Singh. He added that NimaGen has already launched a kit for screening CFTR variants called the EasySeq CFTR HotSpot Sequencing Kit, which retails for €1,528 ($1,595).

Singh said that ARCEDI has not decided on how it will commercialize its prenatal CF test. One path forward would be to launch it as a separate test, such as an Evita Test CF, with the option to combine it with Evita Test Complete.

"That way, a pregnant woman can get information on the CF status of the fetus and, at the same time, has the option of performing complete chromosome analysis on the fetus," Singh remarked.

ARCEDI is exploring the application of its technology in other areas of reproductive genetics. For example, it recently conducted a feasibility study involving molar pregnancies, when a fertilized egg suffers from a genetic imbalance and eventually does not survive. According to Singh, ARCEDI looked at 15 cases of suspected molar pregnancies and analyzed the genomes of circulating gestational trophoblasts using its platform. The firm also compared its results with cell-free DNA analysis and CVS. A paper on the study is currently under review with a journal, he said.

Another project around preterm birth is underway, where new markers are being used to isolate fetal membrane cells using ARCEDI's technology, Singh said. The company expects to commence a clinical study to investigate whether fetal membrane cells isolated from maternal blood can be used as biomarkers to predict preterm birth.

A complete shift

While ARCEDI is exploring other applications of its technology in noninvasive prenatal testing, it's also in the midst of changing platforms. Singh said that the firm has validated the use of sequencing in house and recently entered into a partnership with the department of molecular medicine (MOMA) at Aarhus University Hospital to run its tests using sequencing in lieu of array CGH. "We expect a complete shift from aCGH to NGS in the coming year," he said.

The company is also working with MOMA on another project that will use its technology to isolate and enrich circulating tumor cells instead of fetal cells. That project kicked off earlier this year with an initial focus on prostate cancer, Singh said.

Karina Dalsgaard Sørensen, a professor at Aarhus University, confirmed her group is working with ARCEDI. Sørensen has been trying to develop new molecular diagnostic approaches for prostate cancer, not only for making a diagnosis but also to guide treatment. She said that her group is interested in seeing if through a partnership with ARCEDI it can isolate circulating tumor cells from blood samples drawn from prostate cancer patients.

"We hope to use it in the most advanced disease cases to monitor treatment response, guide treatment selection, and determine treatment resistance," Sørensen said.

Such a liquid biopsy-based test would be "highly attractive" to clinicians, she noted. While some approaches exist that analyze cell-free DNA obtained from cancer patients, she said, they don't provide information on RNA profiles, which could be used to better characterize treatment response, for example.

She stressed that MOMA and ARCEDI have just commenced their work and will first embark on a feasibility study to try out different methods for isolating cancer cells from prostate cancer patients recruited through Aarhus University Hospital. "We want to see if we can fish out some circulating tumor cells to find out which different methodologies would be the best choice," she said.

Sørensen added that while prostate cancer is a current focus because of her own research interests, such a technique would "definitely be relevant for any type of cancer."

Singh declined to talk of potential launches of these new applications. "It’s a little early to put dates on different activities," he said. "But we expect most of it to materialize."

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