Neurodevelopmental Disorders

Highlights Continued Progress in Early Detection and the Progression of Esophageal Disease SUFFERN, N.Y., May 2, 2025 /PRNewswire/ -- CDx Diagnostics announced today that new clinical data supporting the utility of the WATS3D test for Barrett's esophagus and dysplasia screening and surveillance has been selected for podium presentation at the 2025 Digestive Disease Week (DDW) in San Diego, the premier conference for gastroenterology professionals. This podium presentation, along with additional data featured in a separate poster presentation, highlights WATS3D's vital role in early detection, progression monitoring and risk assessment of patients at risk for Barrett's esophagus and esophageal cancer. Continue Reading WATS3D has consistently shown superior detection rates compared to conventional forceps biopsy (FB), the latter of which can miss up to 50% of cases. By sampling a broader area of mucosa and analyzing more cellular material using advanced 3D imaging, WATS3D may help gastroenterologists detect Barrett's esophagus that might otherwise go undiagnosed. New DDW 2025 data reveal WATS3D's enhanced capabilities for Barrett's detection, surveillance and risk assessment. Post this Key Events at DDW 2025: Podium Presentation: "Progression Rates of Barrett's Esophagus and Dysplasia Detected by WATS3D Are Similar to Those Diagnosed by Forceps Biopsies" Poster Presentation: "MUC2 Immunostaining Predicts Neoplastic Progression as Accurately as the Presence of Goblet Cells in Columnar-Lined Esophagus: A WATS3D Study of 3,553 Patients" Nicholas J. Shaheen, MD will deliver the podium presentation, based on a collaborative study with Dr. Michael Smith, Dr. Vivek Kaul, Mendel Singer Ph.D., and Dr. Robert Odze. "The findings validate WATS3D's role in early detection," said Dr. Shaheen. "We're excited to share these results at DDW and discuss their impact on patient care." Robert D. Odze, MD noted that "These studies advance our understanding of the biological significance of WATS3D detected lesions and their risk of progression to cancer in Barrett's esophagus." The new data shared at DDW 2025 from May 3-6 offers important clinical insights into the evolving role of WATS3D in Barrett's detection, surveillance and risk assessment. For more information, visit or contact us at [email protected]. About CDx Diagnostics CDx Diagnostics' mission is to Empower Physicians with Innovative Technology to Prevent Esophageal Cancer, One Patient at a Time. The company's proprietary diagnostic platform combines advanced computer imaging, artificial intelligence, molecular biology, and 3D cytopathology to detect precancerous changes earlier and more precisely than conventional methods. This pioneering solution has analyzed over 400,000 cases, empowering providers to identify those requiring early intervention, reduce time to treatment, and improve outcomes by detecting disease that might be missed by traditional forceps biopsies. CONTACT: Logan Garrett [email protected] 423-519-9979 SOURCE CDx Diagnostics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

When Siren Biotechnology CEO Nicole Paulk learned last month that top FDA official Peter Marks had resigned , she began looking outside the US for a place to host a planned clinical trial. The US has traditionally attracted drug studies with its robust infrastructure, diverse patient population and a smoother regulatory path to the world’s largest pharmaceutical market. But growing uncertainty over the FDA’s timelines and approval processes appears to be accelerating an existing paradigm: US drugmakers testing their drugs abroad. That follows the Trump administration’s cuts to the FDA and the departure of high-profile officials like Marks, who cited vaccine misinformation promoted by HHS Secretary Robert F. Kennedy Jr. in his resignation letter. Although best known for regulating vaccines, Marks also oversaw the review of cell and gene therapies. San Francisco-based Siren, which developed a gene therapy targeting aggressive brain cancers, has been pursuing FDA approval to start human testing in the US. But after Marks’ departure, the company is considering Canada for what could be a more predictable regulatory environment. “If I knew the FDA’s position definitively on certain regulatory pathways, that would be very different. But you can’t put all your eggs in one basket,” Paulk said. In a statement forwarded by a spokesperson, the FDA said “companies can remain confident in the strength, stability, and reliability of the FDA’s regulatory processes,” and that the agency is “not seeing any interruption in core program functions.” Likewise, some companies say that the FDA’s engagement has not fallen by the wayside, including vaccine maker GSK . FDA Commissioner Marty Makary meanwhile has vowed to accelerate approvals for rare disease therapies , reduce animal testing requirements and streamline development timelines. For companies, his words are promising but only aspirational at this point. “Since we are in the ultra-rare disease space, Makary’s words on creating paths for rare [diseases] creates hope, and we are looking forward to learning more about his plans,” Mahzi Therapeutics CEO Yael Weiss said. Mahzi, which is working on treatments for rare neurodevelopmental disorders, plans to seek regulatory approval to launch a clinical trial for a therapy targeting Pitt-Hopkins syndrome that causes developmental delays. The San Francisco company is exploring options abroad, in hopes of starting the study faster and due to “regulatory review timeline uncertainties,” Weiss said. Fears over regulatory delays grew even more real on Tuesday, when Stealth Therapeutics said the FDA would not meet its deadline for approving or rejecting the company’s rare disease drug. A person familiar with the situation said the company hadn’t been asked to run more trials or provide more data, that the FDA hadn’t identified any safety concerns, and that the agency hadn’t raised manufacturing issues — typical reasons for why it might reject a drug, Endpoints News reported. Camille Samuels, who sits on various biotech boards, said that several companies she advises were already looking at the UK and Australia for early-stage studies, and that “the disaster that is the FDA only heightens the desire to explore that option.” While an inviting concept now, experts urge companies not to make hasty decisions in case regulatory headwinds dissipate. “My personal counsel, if someone did call me with that request, would be to just sit down, chill out and make a coffee,” said Anthony Davies, CEO of Dark Horse Consulting, which advises cell and gene therapy companies. There are signs that the portion of clinical trials in the US is declining. According to data from the World Health Organization, about 20% of trials were conducted at least in part in the US in 2015. That percentage has declined over the last decade, to about 15%, as countries such as China and India have taken more share. With confidence in the FDA wavering, countries across the world are stepping up campaigns to attract clinical trials that bring in billions in research funding, create jobs and support biotech hubs. “While much public attention has focused on efforts to lure disillusioned US scientists, you could say similar initiatives exist to attract clinical trial activities,” said Aman Khera, a consultant and president of The Organisation for Professionals in Regulatory Affairs. Even before the Trump administration, some US companies said that FDA bureaucracy and regulatory hurdles have enticed companies to go abroad for clinical trials. It can be less expensive and quicker to start testing drugs elsewhere. Much of the recent interest in foreign clinical trial sites is coming from small to mid-sized biotech companies that face budget pressures due to an industry downturn. But even large pharma companies — which have long run multinational studies to obtain regulatory clearance in multiple regions — are looking to increase their international capacity, according to consultants. Many companies are “showing interest in or have already taken steps to move clinical trials overseas” in response to the FDA reorganization, Khera said. QurAlis, a Cambridge, MA-based company developing drugs for neurodegenerative diseases, was looking to run a Phase 2 clinical trial for an undisclosed program only in the US. But after FDA layoffs were announced, the company is now pursuing a multinational approach. “There is a reorganization ongoing, and that has an impact,” QurAlis CEO Kasper Roet said. “And the impact at the very least builds in uncertainty.” To some extent, international trials are more feasible because agencies in Europe, Canada, Australia and the UK have worked in recent years to harmonize guidelines with the FDA, whose decisions carry outsized weight globally . Still, overseas trials have limitations. Data from foreign trials may not always satisfy a common FDA requirement that study data reflect the US population. Genetic or environmental differences among patient populations can complicate results, and so “running local studies ensures that data reflects the target population’s safety and efficacy outcomes,” Khera said. For that reason, companies have incentive to run at least a portion of the studies for a drug in the US.

NEW YORK and TRUMBULL, Conn., April 30, 2025 /PRNewswire/ -- Apertura Gene Therapy, a biotechnology company focused on innovative gene therapy solutions, and the Rett Syndrome Research Trust (RSRT), an organization working to cure Rett Syndrome, today announced a collaboration to license Apertura's human transferrin receptor 1 capsid (TfR1 CapX). This partnership aims to advance innovative genetic medicine approaches for the treatment of Rett Syndrome, a rare genetic neurological disorder caused by random mutations in the MECP2 gene on the X chromosome that primarily affect females, causing developmental regression and severe motor and language impairments. Apertura's TfR1 CapX is an intravenously delivered adeno-associated virus (AAV) capsid engineered to bind the transferrin receptor 1(TfR1), enabling efficient delivery of genetic medicines across the blood-brain barrier (BBB). TfR1 is a well-characterized BBB-crossing receptor, broadly and consistently expressed throughout life—even in the context of neurological disease—making it an attractive target for CNS delivery in disorders like Rett syndrome. Developed by Apertura's academic founder, Dr. Ben Deverman, Director of Vector Engineering at the Broad Institute, TfR1 CapX has shown strong CNS selectivity in preclinical studies, achieving over 50% neuronal and 90% astrocyte transduction across multiple brain regions. Because Rett syndrome affects the brain diffusely, broader cellular transduction may correlate with greater symptomatic improvement. "Efficient, safe, and widespread delivery of genetic medicines to the brain is the ultimate goal for treating CNS disorders such as Rett syndrome. Successfully addressing this challenge would dramatically accelerate the development of genetic medicines for Rett and other neurological diseases. My colleagues and I have extensively evaluated advanced delivery technologies, and Apertura's capsid stands out for its impressive CNS biodistribution capabilities," said Monica Coenraads, Founder and CEO of RSRT and parent to an adult daughter with Rett. "We're enthusiastic about integrating this innovative capsid into our internal gene-editing programs and facilitating its adoption for external Rett syndrome programs as well. This collaboration represents a major step forward for patients." Last year RSRT launched the MECP2 Editing Consortium, a collaboration among six labs, developing next-generation genetic medicines for Rett syndrome. The Consortium's editing programs will be utilizing the Apertura capsid to deliver genetic medicine cargoes diffusely across the brain non-invasively. Furthermore, the license allows RSRT to sublicense the capsid for Rett programs. "RSRT has made remarkable progress in advancing Rett syndrome therapies, and Apertura is committed to accelerating this momentum with TfR1 CapX. Our engineered capsid addresses the critical need for more potent and less invasive treatments, significantly benefiting patients and caregivers. This collaboration reflects the innovative efforts of both organizations and serves as a pioneering example of how industry partnerships can rapidly advance vital therapies for patients in need," said Diego Garzón, PhD, Vice President of Corporate Development, Apertura Gene Therapy. "Apertura's TfR1 capsid has the potential to transform treatments for CNS diseases. We are committed to partnering with both for-profit and non-profit organizations to maximize this innovation's impact for patients." About Rett Syndrome Rett syndrome is a rare genetic neurodevelopmental disorder caused by random mutations in the MECP2 gene on the X chromosome. The disorder predominantly affects girls but can also rarely affect boys. Symptoms typically become apparent between the ages of 12 to 18 months. Rett syndrome is devastating as it deprives toddlers of speech, hand use, and normal movement often including the ability to walk. As childhood progresses the disorder brings anxiety, seizures, tremors, breathing difficulties, and severe gastrointestinal issues. While their bodies suffer, it is believed that their cognitive abilities remain largely intact. Although most children survive to adulthood, they require total round- the-clock care. About Rett Syndrome Research Trust The Rett Syndrome Research Trust is a non-profit organization exclusively focused on advancing genetic medicines for Rett syndrome. Multiple clinical trials in gene therapy for Rett syndrome are now underway, all possible because of RSRT-funded research. In 2024 RSRT launched a $40 million initiative, Roadmap to Cures, with a goal to bring three genetic medicines, beyond the current gene therapies, to clinical trials by 2028. RSRT's mission is clear, urgent, and personal: to cure Rett syndrome and transform the lives of the people we love. To learn more, please visit . Follow us on Facebook, Instagram and YouTube. About Apertura Gene Therapy Apertura Gene Therapy is a biotechnology company unlocking new opportunities for treating currently intractable diseases. The company is uniquely positioned to develop genetic medicines to overcome limitations in cellular access, gene expression, pre-existing immunity and manufacturability. Founded in 2021 on technology from the Broad Institute, and with support from Deerfield Management Company, the company is based in New York City. For more information, please visit our website at and follow us on LinkedIn. Contact: Apertura Gene Therapy Diego Garzón [email protected] Rett Syndrome Research Trust Amanda Breeding Scient PR [email protected] SOURCE Apertura Gene Therapy WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED