MECP2

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

Welcome back to Endpoints Weekly! Our team of reporters covered first-quarter earnings results from a handful of companies this week. See below for pharma executives’ comments on tariff exposure, dealmaking and more. We also have an assessment of the industry’s first quarter from Endpoints News’ founding editor John Carroll, who broke down numbers and charts on dealmaking activity, VC investment and more. We’ll be following more Q1 updates next week from Pfizer, Moderna, GSK and others, so stay tuned. And keep an eye out for news from the American Association for Cancer Research Annual Meeting in Chicago, where our reporter Lei Lei Wu is on the ground covering the latest readouts and trends. — Nicole DeFeudis Some of the biggest names in the pharma industry reported their first-quarter earnings this week, including Sanofi, Roche, Merck, Bristol Myers Squibb, Gilead and AbbVie. Tariffs were top of mind for investors , with each company’s executives getting peppered with questions about how President Donald Trump’s trade war would affect the industry. Most opted for a wait-and-see approach , but Roche CEO Thomas Schinecker notably took a proactive stance in warning of a negative impact on dealmaking. Any questions or unknowns about tariffs would make it “more difficult to make financial sense of any M&A deals,” he said Thursday. Roche estimates that four of its medicines make up about 92% of its tariff exposure, though it wouldn’t specify which drugs those are. Here’s a quick rundown of some of the other highlights: FDA Commissioner Marty Makary floated a potential new regulatory pathway for some rare disease treatments. In a SiriusXM interview, Makary highlighted that randomized controlled trials aren’t always feasible for extremely rare diseases. He told Megyn Kelly that drugs could potentially be cleared for use “based on a plausible mechanism” on a “conditional basis,” and the agency would closely monitor patients on the drugs until there’s a clearer signal in the data. He reiterated the pathway in an interview with PBS’ “NewsHour” co-anchor and co-managing editor Amna Nawaz this week. “If you’re treating a condition that only affects 52 kids in the world, we shouldn’t be requiring a randomized controlled trial. We may want to authorize or approve something for that condition based on what I call a plausible mechanism, a plausible scientific mechanism,” Makary said during the interview. Further details remain unclear at this time. The idea echoes work by former CBER Director Peter Marks around accelerated approvals for rare disease gene therapies, as well as a bill from former Sen. Mike Braun (R-IN) and Sen. Kirsten Gillibrand (D-NY) to create a new way for the FDA to grant time-limited provisional approval to rare disease drugs that substantially demonstrate early evidence of safety and efficacy. A Chinese biotech shared preliminary results from the first study to test a CRISPR-based treatment in the brain. Alvin Luk, CEO of HuidaGene Therapeutics, spoke to Endpoints’ Ryan Cross last week about the company’s first clinical trials and its business strategy. What is MECP2 duplication syndrome? It’s a rare neurodevelopmental condition that can cause intellectual disability, movement problems and seizures. HuidaGene gave a low dose of its experimental therapy to a 9-year-old boy with MECP2. Three months later, the boy appeared to have improved eye contact, motor skills and walking ability, and was able to respond to simple directions such as “come to eat” or “go to the bathroom.” The results are still early, but HuidaGene is now considering partnerships that could advance its programs. The company also recently unveiled early results for its experimental CRISPR therapy in Duchenne muscular dystrophy. The DMD and MECP2 therapies were both tested in an investigator-initiated trial, where academic or hospital researchers can move forward with less stringent requirements. But Luk said he plans to take the data to the FDA to get clearance for Phase 1 clinical trials in the US. HuidaGene is working on a broad gene editing toolkit, from Cas12 enzymes for DNA cutting to Cas13 for RNA knockdown to tools for base editing and epigenetic editing. “We can choose which tool is the best for the disease,” Luk said. It was a major factor in his decision to join the company as CEO in 2023. Endpoints’ founding editor John Carroll examined biotech’s first-quarter performance this week, pulling in the numbers and charts from Chris Dokomajilar at DealForma. Carroll notes that despite the XBI falling 27% since Trump won the November election, a massive FDA reorganization and broader HHS layoffs, there are some positive signs under the hood. Most importantly, dealmaking activity remains active, even though IPOs and PIPEs remain cool. Mid- and late-stage assets continue to make attractive takeout options for bigger companies, while licensing deals and other partnerships are holding steady. But a big question remains: Can these trends hold up for the rest of the year as uncertainty lingers from Trump’s tariffs? The number of barely surviving biotechs has reached a crisis level for some investors, and a handful of individuals are looking to do something about it. Nicholas Johnston, a longtime healthcare banker at JP Morgan and Perella Weinberg Partners, recently launched Alis Biosciences, which wants to work with C-suites and boards to make better use of their cash. They estimate over $30 billion in “trapped” capital on the books of an estimated 300 publicly traded biotechs.

TRUMBULL, Conn., March 13, 2025 (GLOBE NEWSWIRE) -- The Rett Syndrome Research Trust (RSRT), the organization working to cure Rett syndrome, is pleased to announce that Amy Gilliland, President of General Dynamics Information Technology (GDIT), has joined its Board of Trustees. Amy’s daughter, Ashley, who was diagnosed with Rett syndrome in 2015, is the inspiration behind her drive to help find a cure for the 350,000 children and adults living with this devastating neurological disorder worldwide. “I’m thrilled to join the Board of Trustees and get even closer to the Reverse Rett mission,” says Amy Gilliland. “As a parent of a child living with Rett syndrome—like so many others leading and advising the RSRT— I share their dedication and urgency to find a cure. RSRT is an organization that delivers results. I am confident Rett syndrome can be eradicated, and I am excited to support the research that will get us there.” Amy brings significant experience in strategy, business growth, and leadership. As president of GDIT she oversees an $8.7 billion global technology enterprise. Gilliland has more than 25 years of public sector experience including nearly two decades in leadership positions at General Dynamics and service in the U.S. Navy. Amy has a longstanding commitment to RSRT and contributing to advance Rett research. Since 2018, she has spearheaded Reverse Rett DC, an annual fundraising and awareness event that has raised over $2 million for RSRT research. “We’re so fortunate to have Amy joining our Board,” says Monica Coenraads, RSRT’s Founder and Chief Executive Officer. “Her business acumen, leadership skills, and wide-ranging experience, along with her remarkable dedication to our cause will be invaluable to the Board and to RSRT. I know for Amy advancing Rett research is a family affair. Her husband, John, and son, Patrick, and youngest daughter, Elizabeth are as passionate as she is about our mission and I thank them, too, for their roles in Reverse Rett DC, and their commitment to Ashley and all with Rett syndrome.” About Rett SyndromeRett Syndrome is a genetic childhood neurological disorder caused by random mutations of the MECP2 gene on the X chromosome. It predominantly affects girls but can rarely also affect boys. Its symptoms typically become apparent between the ages of 12 to 18 months. Rett syndrome is devastating as it deprives young children of speech, hand use, and normal movement often including the ability to walk. As the children enter childhood 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 the Rett Syndrome Research Trust The Rett Syndrome Research Trust, a non-profit organization, began in 2008 at Rett parent Monica Coenraads’ kitchen table. RSRT was founded on three simple but powerful truths: children and adults with Rett syndrome are suffering and we must be their voices and their advocates; Rett syndrome is, remarkably, reversible in mouse models of the disorder; and, with continued research progress and sufficient funding, science holds the potential to translate that reversal in mice to a reversal in people. RSRT, which is the only organization exclusively focused on advancing genetic-based cures for Rett, is the largest funder of Rett research worldwide, with almost $110 million raised since its founding. 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 www.reverserett.org. Follow us on Facebook, Instagram and YouTube. Contact:Amanda BreedingScient PRamanda@scientpr.com A photo accompanying this announcement is available at https://www.globenewswire.com/NewsRoom/AttachmentNg/992d3595-12a0-4c09-8762-7e28bd061583