Inozyme Pharma Inc. | June 17, 2022
Inozyme Pharma, Inc. a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of abnormal mineralization, today announced a partnership with Rady Children’s Institute for Genomic Medicine (RCIGM) to advance and evaluate a novel newborn screening technology to facilitate diagnosis of genetic diseases. The partnership includes several leading genomics, biotechnology companies and patient advocacy groups and focuses specifically on a diagnostic and precision medicine guidance tool called BeginNGS™, which incorporates rapid Whole Genome Sequencing (rWGS®) to currently screen newborns for approximately 400 genetic diseases.
“Newborn screening will be essential to identifying and initiating timely intervention in children with rare genetic disorders like GACI (generalized arterial calcification of infancy) as we advance INZ-701 through clinical testing. We look forward to working with Rady Children’s Institute for Genomic Medicine, and with the BeginNGS consortium, to advance the use of this promising screening technology.”
Catherine Nester, vice president, physician and patient strategies at Inozyme Pharma
RCIGM is in a pilot evaluation that aims to supplement existing newborn screening protocols at birthing hospitals throughout the United States. The pilot program’s goal is for BeginNGS to become the genetic disease screening standard, with testing expanding to approximately 1,000 [disorders] and sequencing of 3.7 million newborns annually. Founding members of the public-private BeginNGS consortium include Inozyme, Alexion, Travere Therapeutics, and several patient advocacy groups that are helping to advance this program.
“RCIGM helped pioneer the use of rWGS for diagnosis of genetic disease in intensive care settings,” said Stephen Kingsmore, MD, DSc, president and CEO of RCIGM. “With the proven clinical utility of diagnostic rWGS , we are using that experience to screen, diagnose, and help treat genetic conditions at or before onset of symptoms. Through a public-private consortium of leading organizations such as Inozyme, and advocacy groups in pediatrics, genetics, biopharma, biotech, and information technology, we aim to scale newborn sequencing to every life-threatening childhood genetic disease, RCIGM believes now is the time to end the diagnostic and therapeutic odyssey for all children with treatable genetic diseases.”
BeginNGS developed through a research collaboration with Alexion; AstraZeneca’s Rare Disease group; Illumina, Inc.; TileDB; Fabric Genomics; and Genomemon, which uses rWGS to diagnose and identify treatment options for genetic conditions before symptoms begin. This approach represents an advance over current pediatric uses of rWGS that focus mainly on children who are already critically ill. Once a diagnosis is made, BeginNGS uses Genome-to-Treatment (GTRx™), a tool that provides immediate treatment guidelines to help physicians understand genetic conditions and their available treatment options.
Addressing the Need for Enhanced Newborn Screening Tools
Traditional newborn screening is one of the most successful public health programs in the United States. Of nearly 4 million babies born annually, 98 percent are tested in the first days of life. The BeginNGS test identifies serious childhood diseases that have effective treatments. States currently screen for only 31 to 76 of the hundreds of severe, childhood genetic diseases that have available treatments. Adding a new condition to the screening protocol is slow (5 to 6 years per condition), laborious, and costly. In the last decade, WGS has increased in speed, diagnostic performance, and scalability. BeginNGS will not replace the current biochemical newborn screening paradigm; rather, it is designed to complement the newborn screening processes and infrastructure that are already in place.
“We are thrilled at the prospect of newborn screening to assist in early identification of infants affected by ENPP1 Deficiency and ABCC6 Deficiency via Inozyme’s collaboration with Rady Children’s Institute for Genomic Medicine. Early diagnosis is crucial to improving a baby’s chances of survival and long-term health if they have these rare and devastating diseases,” said Christine O’Brien and Liz Molloy, co-presidents of GACI Global.
About Rady Children’s Institute for Genomic Medicine
Rady Children’s Institute for Genomic Medicine is transforming pediatric critical care by advancing disease-specific healthcare for infants and children with rare disease. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego and a growing network of more than 60 children’s hospitals nationwide. The vision is to expand delivery of this life-changing technology to enable the practice of Rapid Precision Medicine™ at children’s hospitals across the nation and the world. RCIGM is a non-profit, research institute embedded within Rady Children’s Hospital and Health Center.
About Inozyme Pharma
Inozyme Pharma, Inc. is a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue, and skeleton. Through our in-depth understanding of the biological pathways involved in mineralization, we are pursuing the development of therapeutics to address the underlying causes of these debilitating diseases. It is well established that two genes, ENPP1 and ABCC6, play key roles in a critical mineralization pathway and that defects in these genes lead to abnormal mineralization. We are initially focused on developing a novel therapy, INZ-701, to treat the rare genetic diseases of ENPP1 and ABCC6 Deficiencies. INZ-701 is currently in Phase 1/2 clinical trials for the treatment of ENPP1 Deficiency and ABCC6 Deficiency.
Curia | June 10, 2022
Curia, formerly AMRI, a leading contract research, development and manufacturing organization, and Replicate Bioscience, a company pioneering ways to prevent drug resistance in cancer and to treat autoimmune and inflammatory disorders and other diseases using self-replicating RNA (srRNA), today announced that they will collaborate on a robust development platform for Replicate’s srRNA therapeutics.
As part of the collaboration, Curia’s experienced process development team will support the GMP production of Replicate Bioscience’s srRNA vectors up to eight-liter scale (8L), which can be used in Phase 1 through pivotal clinical trials. Curia’s global mRNA development and manufacturing facility is ISO-13485 certified and located near Boston, Massachusetts. This facility also supports innovators engaged in vaccine and other mRNA therapy development and manufacture through Phase 2 and 3, including GMP assays. Additional Curia facilities support manufacture of srRNA through commercial production scales.
“Replicate’s approach to srRNA is unique, in that we create our own virally-derived synthetic vectors to customize srRNAs to deliver specific proteins,” said Replicate Co-founder and Chief Development Officer Andrew Geall, Ph.D., who previously has set up srRNA CMC frameworks for companies including Novartis, Synthetic Genomics, and Precision Nanosystems. “This customization has important therapeutic. advantages—versatility of application, lower dosing, and longer duration of therapeutic effect compared to other RNA modalities—but requires built-for-purpose processes to solve the challenges of manufacturing longer RNAs. Curia’s unprecedented expertise in process development and end-to-end integration of longer RNAs makes them a perfect partner for us as we transition from research into clinical development and the production of our srRNA for trials in patients.”
“The manufacture of these longer mRNAs is more technically challenging than non-replicating mRNAs and to date we have succeeded with mRNAs up to 16,000 bases. Curia’s platform offers versatility and streamlined manufacturing times that can handle such complex molecules. Our collaboration with Replicate Bioscience is enabling us to create entirely new methods of manufacturing longer RNAs. We have built our platform from the ground up, using our combined experience in biologics and chemistry to create end-to-end solutions covering mRNA synthesis, lipid synthesis, formulation, and liquid nanoparticle fill-finish. We are proud to apply our capabilities and expertise to support the Replicate Bioscience team and its innovative approach.”
Norman Garceau, Ph.D., Vice President, Global R&D Technology, Curia
Curia, formerly AMRI, is a leading contract research, development and manufacturing organization providing products and services from R&D through commercial manufacturing to pharmaceutical and biopharmaceutical customers. Curia’s 3,700 employees at 29 locations across the U.S., Europe and Asia help its customers advance from curiosity to cure. Learn more at CuriaGlobal.com.
About Replicate Bioscience
Replicate Bioscience, an ATP company, is designing and delivering srRNA immunotherapies to revolutionize the practice of medicine and improve and save lives. Replicate applies advanced srRNA technology in its work to prevent drug resistance in cancers. The company is also developing srRNA injections for sustained therapeutic protein expression to treat autoimmune and inflammatory disorders and other conditions. Replicate believes that srRNA will bring about the next big breakthroughs in RNA therapeutics and is working to realize the promise of srRNA for all patients.
Nucleai and Sirona Dx | July 14, 2022
Nucleai, a leader in AI-powered spatial biology transforming precision medicine by unlocking the power of pathology data, and Sirona Dx, a leading provider of multiomic single-cell analytical services, today announced a collaboration to advance the discovery of novel spatial biomarkers in solid tumors. The partnership combines Nucleai’s powerful AI spatial analytics platform with Sirona Dx’s leading multiplex assay development expertise to identify novel spatial signatures in high-plex assays that predict response to therapy and inform treatment decisions. Through this strategic collaboration, Sirona Dx will provide Nucleai and its customers with a CRO partner that will enable the deployment of AI-based diagnostic algorithms to support biopharma clinical trials.
Nucleai’s robust computational AI-powered spatial biology algorithm supports various image modalities and cancer indications, offering a highly customizable, deployable solution across the drug development ecosystem. These capabilities earned Nucleai the position of one of the top 10 spatial biology companies in 2022.
“Multiplex imaging technologies have improved rapidly over the years; however, identifying actionable insights from all the data collected remains immensely challenging. This powerful synergy between Sirona Dx and Nucleai is very exciting as it will allow us to identify actionable spatial signatures that can predict response to immunotherapy.”
Avi Veidman, Co-Founder & Chief Executive Officer of Nucleai
Sirona Dx is recognized as the original pioneers of spatial biology, having launched the first spatial-omics CRO service to biopharma in 2018. Today, their technology-agnostic, spatial biology suite includes the leading multiplexed imaging platforms and combines deep technical expertise required to develop high-performance multiplexed assays as large as 50 markers. Sophisticated multiplexed tissue imaging capabilities contributed to their selection as a Top 10 CRO of 2021 by Medhealth Outlook.
“We are delighted to announce a partnership with Nucleai,” said Andrew Brown, Ph.D. Chief Commercial Officer at Sirona Dx. “Nucleai’s AI-driven analytical capabilities are exceptional. Our combined expertise in multiplexed tissue assay development, data generation and state-of-the-art analysis will unlock new spatial insights and accelerate the spatial biology revolution in precision medicine.”
Nucleai is an AI-powered spatial biology company with a mission to transform drug development and clinical treatment decisions by unlocking the power of pathology data. Nucleai provides pharmaceutical companies, contract research organizations, and diagnostics laboratories with a state-of-the-art AI platform to improve clinical trials and clinical decision-making.
About Sirona Dx
Sirona Dx is a technical, CLIA accredited CRO, founded in 2016 to accelerate the pace of immunotherapy and targeted therapy development. With a leading-edge menu of specialized high complexity, single-cell proteomics and genomics services, Sirona Dx supports exploratory biomarker programs and advanced precision medicine initiatives to deliver safer and more effective treatment solutions.