November 30, 2022 | A deep learning model that uses a single chest X-ray to predict the 10-year risk of death from a heart attack or stroke; a new blood test to improve early detection and diagnosis of clinically significant prostate cancer in patients by minimizing unnecessary invasive tissue biopsies; real-time PCR technology to screen for spinal muscular atrophy and severe combined immunodeficiency using a single dried blood spot sample; and more.
C2N Diagnostics announced its next-generation test to aid in diagnosing Alzheimer’s disease (AD): the PrecivityAD2 blood test. With an anticipated launch in Q1 2023, the test is expected to facilitate an earlier and more accurate diagnosis of AD pathology. The test uses precise and robust mass spectrometry-based measurements of two key plasma proteins implicated in the AD process: tau and amyloid beta. The PrecivityAD2 test uses a statistical algorithm to integrate a patient’s Aβ42/40 ratio and p-Tau217 ratio to calculate the Amyloid Probability Score 2 (APS2). The APS2 determines whether a patient is positive or negative for brain amyloid plaques based on a binary cutoff value. Press release.
Massachusetts General Hospital and Brigham and Women’s Hospital researchers have developed a deep learning model that uses a single chest X-ray to predict the 10-year risk of death from a heart attack or stroke stemming from atherosclerotic cardiovascular disease. The researchers developed a deep learning model using a single chest X-ray (CXR) input, known as CXR-CVD risk, to predict the risk of death from cardiovascular disease using 147,497 chest X-rays from 40,643 participants in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial. This trial is a multi-center, randomized controlled trial designed and sponsored by the National Cancer Institute. There was a significant association between the risk predicted by the CXR-CVD risk deep learning model and observed major cardiac events. The CXR-CVD risk model performed similarly to the conventional clinical standard for this subset of patients and even provided incremental value. Press release.
University of Southern California Keck School of Medicine researchers identified enlarged perivascular spaces in the brains of migraine sufferers. The researchers used ultra-high-field 7T MRI to compare structural microvascular changes in different types of migraine. Statistical analysis revealed that the number of enlarged perivascular spaces in the centrum semiovale was significantly higher in patients with migraine compared to healthy controls. The researchers hypothesize that significant differences in the perivascular spaces might suggest glymphatic disruption within the brain. The glymphatic system is a waste-clearance system that utilizes perivascular channels to help eliminate soluble proteins and metabolites from the central nervous system. Continued study with larger case populations and longitudinal follow-up will better establish the relationship between structural changes and migraine development and type. Press release.
Researchers at Indiana University (IU) School of Medicine celebrated the Federal Drug Administration's approval of teplizumab. This new immunotherapy drug delays the onset of type 1 diabetes in at-risk individuals by an average of almost three years. IU School of Medicine was one of 28 sites that participated in the original teplizumab study conducted by TrialNet, the largest clinical trial network assembled to discover ways to delay and prevent type 1 diabetes. The newest findings show high-risk individuals treated with Teplizumab experienced a median delay of diagnosis by 2.7 years versus the placebo group and showed improved rates of insulin production, despite exhibiting insulin loss over time before treatment. In response to teplizumab’s approval, Riley Hospital for Children at Indiana University Health has opened a new clinic for individuals with a high risk of developing type 1 diabetes. Press release.
Roche announced that the U.S. Food and Drug Administration granted Emergency Use Authorization for cobas monkeypox virus (MPXV) for use on the cobas 6800/8800 Systems. The test is a real-time PCR test for qualitatively detecting DNA from the MPXV in lesion swabs collected from individuals suspected of monkeypox infection by their healthcare provider. This dual-target approach ensures that cobas MPXV will continue to detect the virus even if a mutation occurs in one of the target regions. The high-throughput solution can help individuals get the right results quickly. An increase in diagnostic speed is essential so that patients are not subjected to unnecessary additional testing or isolation and will have access to appropriate treatment as soon as possible. Like many viruses, monkeypox cannot be conclusively diagnosed by symptoms alone. Press release.
A saliva-based test that rapidly and accurately diagnoses concussions is expected to be available following a patent awarded to Quadrant Biosciences, Penn State, and the State University of New York by the U.S. Patent and Trademark Office. The patent covers an essential component of the team’s ClarifiTM mTBI Saliva Test, developed after several years of research where the team found that the presence of microRNAs in saliva could accurately indicate a concussion similar to currently available tests involving balance and reaction time. The company is seeking licensing for this technology and expects the test to be open to physicians in 2023. Press release.
The newly launched study, called the SuperAgers Family Study, is the most ambitious study ever conducted to uncover and understand the genetic and biological mysteries of exceptional longevity and healthy aging. The study will collect the DNA samples and health histories from as many as 10,000 people who celebrated their 95th birthdays and beyond, along with their children. The study will be administered at Albert Einstein College of Medicine through the support of the multi-year Super Agers Initiative led by AFAR in collaboration with Boston University’s School of Medicine and Einstein. The biobank holding the DNA records, and all the related data, will be protected and maintained at Einstein. Future researchers can apply for permission to use the specimens and information for new studies to prevent, diagnose, or treat diseases. Press release.
GlycoNet is pleased to announce that one of its five start-up companies, GlyCa Biosciences, has collaborated with Huron Innovation to advance clinical research for a new blood test to improve early detection and diagnosis of clinically significant prostate cancer in patients, with the primary goal of minimizing unnecessary invasive tissue biopsies. With support from GlycoNet, GlyCa Biosciences has been developing blood tests focused on prostate cancer detection since 2018. Huron Innovation co-developed four pieces of technology with GlyCa Biosciences, forming the foundation of the blood tests to be evaluated in the clinical trial. Press release.
Shimmer Research announced the launch of its Verisense Digital Health Panel (DHP) to provide clinical researchers with access to raw, real-world, digital health ground-truth sensor data. These data will be combined with patient-reported outcomes and real-world data to provide a complete longitudinal view of participant health. Shimmer selected Schlesinger Clinical Research as its panel management partner for the Verisense DHP. Participants will initially be equipped with Verisense wearable sensors but other third-party devices that can contribute raw data to be added later. Verisense is a highly flexible, modular patent-pending platform designed from the ground up to meet the specific needs of clinical trials and remote patient research. As a result, it places a minimum burden on all the research stakeholders—sponsors, site staff, and participants. In addition, Verisense sensors are versatile and dependable, providing 24/7 access to high-quality raw data. Press release.
Leiden University Medical Center, Netherlands, researchers found changes in the levels of particular proteins in people’s blood up to two years before they were diagnosed with breast cancer. Their findings could form the basis of blood testing for people with a genetic predisposition or a family history of breast cancer up to two years before a diagnosis. Researchers used mass spectrometry to analyze the levels of different proteins in women’s blood. So far, the researchers have detailed analyses of 30 blood samples taken over time from three women diagnosed with breast cancer and three women who have not developed breast cancer and found distinct differences between the women over time. Their work has revealed a set of six protein biomarkers one to two years before diagnosis. Press release.
Foundation Medicine announced the launch of FoundationReport+, a new interactive digital report to enhance the useability of comprehensive genomic profiling results. The digital view of the Foundation Medicine report provides physicians with an adaptable experience to view genomic insights and supports more efficient and streamlined treatment decisions for their patients. With improved navigation to actionable insights, the interactive functionality improves the overall clarity of patients’ results compared to the traditional PDF report. This launch complements other recent initiatives to integrate Foundation Medicine reporting into electronic medical records with partners, including Epic, OncoEMR, Cerner, and more. Press release.
PerkinElmer announced that the U.S. Food and Drug Administration (FDA) authorized the marketing of the EONIS SCID-SMA assay kit for in vitro diagnostic (IVD) use by certified laboratories for the simultaneous detection of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in newborns. This occasion marks the first FDA-cleared assay for SMA screening in newborns in the United States and is part of the Company’s broader EONIS Platform. The platform is a robust, flexible system that utilizes real-time PCR technology to screen for SMA and SCID using a single dried blood spot sample, combining DNA extraction and multiplexing. When combined with PerkinElmer’s JANUS liquid handler, PerkinElmer’s workflow allows for maximum automation and efficiency and can be configured to a laboratory’s requirements and throughput. The EONIS Platform is already CE-IVD marked for use by certified laboratories in countries that accept the CE mark. Press release.
Massive Bio announced a strategic partnership with Azra AI to provide early identification and precise treatment options, further improving cancer clinical care. Azra AI’s technology, used in over 200 hospitals, including HCA Healthcare, reads pathology reports in a fraction of a second, enabling clinicians to focus on the approximately 10 percent of positive pathology reports immediately to treat patients sooner and give them the best chances for survival. Where Azra AI focuses on identifying cancer, Massive Bio’s platform provides cancer patients with relevant clinical trials using AI, empowering patients to find treatment options faster and enabling life sciences companies to conduct broader, more inclusive, population-based rather than traditional site-specific recruitment. By utilizing AI technology in cancer identification and trial matching, clinical care teams can improve healthcare access and equity by eliminating unconscious bias or human errors that can prevent successful patient enrollment. Press release.
The Institute of Molecular Genetics and Genetic Engineering (IMGGE) at the University of Belgrade introduced its new research interests. Collaboration between IMGGE and BGI began with building two permanent Huoyan laboratories, one of which became a National Laboratory for Molecular Diagnostics of Infectious Agents. IMGGE collaborated with BGI again to create the Serbian Center for Genome Sequencing and Bioinformatics. Subsequently, the staff underwent extensive onsite training in COVID-19, whole exome sequencing, whole genome sequencing, and noninvasive prenatal testing. Following IMGGE’s plans, the Government of the Republic of Serbia plans to build the BIO4 campus in Belgrade, a 20-hectare facility focusing on four key areas: biomedicine, biotechnology, bioinformatics, and biodiversity. Press release.
New research presented at the American College of Rheumatology’s annual meeting (Abstract #1059) showed that the Vision Transformer, an open-source computer vision algorithm, could detect changes in nailfold capillaroscopy (NFC) images from systemic sclerosis patients as reliably as human rheumatologists. Systemic sclerosis is a rare connective tissue disease. A key feature is microvascular abnormalities, which can be visualized using NFC, a non-invasive imaging technique. This study aimed to evaluate the reliability of a Vision Transformer (ViT) model in reading NFC images and to compare its performance to that of rheumatologists. During the learning phase, a ViT model was trained to identify enlarged capillaries, giant capillaries, capillary loss, microhemorrhages, and abnormal morphology. In the reliability set, the algorithm performed best at diagnosing giant capillaries (AUC of 92.6%) and enlarged capillaries (AUC of 90.2%). Press release.
Bio-Rad Laboratories and NuProbe USA signed a licensing and product development agreement where NuProbe USA will exclusively license its allele enrichment technologies to Bio-Rad to develop multiplexed digital PCR assays. This technology will help to advance Bio-Rad’s menu of products in oncology, where highly sensitive and multiplexed mutation detection assays aid translational research, therapy selection, and disease monitoring. NuProbe USA developed and optimized the Blocker Displacement Amplification technology as a PCR method in which variant DNA alleles are enriched over 1000-fold over wild-type alleles. BDA has been experimentally validated on hundreds of clinical samples across multiple platforms, including quantitative PCR, digital PCR, Sanger sequencing, sequencing-by-synthesis, and nanopore sequencing. Press release.
US Patent 11,493,515 was issued to LSU Health New Orleans for a noninvasive diagnostic biomarker test called NECDetect for necrotizing enterocolitis (NEC), a potentially fatal condition in premature infants. NEC is the most common, severe gastrointestinal disease affecting newborn infants. The tissue lining the intestine becomes inflamed, dies, and can slough off. X-rays diagnose the advanced version of the disease, but their sensitivity can be as low as 44%. Conversely, the noninvasive NECDetect biomarker panel on stool samples identifies 93% true positives and 95% true negatives in diagnosing the disease. Fifteen to forty percent of infants with NEC die from the disease, and surgical survivors require lifelong care. Press release.
Genomenon published a paper in Human Mutation (DOI: 10.1002/humu.24477) summarizing current knowledge of clinical and genetic findings in patients with ENPP1 Deficiency. The study, completed in collaboration with Inozyme Pharma, is the largest ever gathered and demonstrates the necessity of comprehensive genomic data for accelerating the diagnosis of rare diseases. Key findings include a three-fold increase in disease-causing variants, which were not found in other commonly used databases. The comprehensiveness of the data found with Genomenon’s approach of AI and expert review provided new insight into the heterogeneity of ENPP1 Deficiency and informed treatment guidance. Researchers identified all published cases of ENPP1 Deficiency using Genomenon’s Mastermind Genomic Search Engine, a comprehensive database of variants with evidence cited in medical literature. In total, over 2,300 articles were reviewed using Genomenon’s AI-powered capability. Press release.
Intrivo, the health technology company behind On/Go rapid COVID-19 tests and the AI-powered mobile app, announced the launch of its free, at-home Test to Treat program, plus new medical support resources for people suffering from long COVID. On/Go offers speed, convenience, and safety by allowing eligible users who test positive to receive free antiviral medication without leaving their homes. The solution was designed by Intrivo’s in-house team of user experience experts, engineers, and data scientists to be widely applicable to other types of treatment in the future. Intrivo’s long COVID support has been developed with leading clinical experts across the nation, including Stanford University-based researchers and Intrivo’s own in-house medical advisory board. Press release.