Latest news with #AmericanSocietyofGeneandCellTherapy
Yahoo
17-05-2025
- Business
- Yahoo
Be Biopharma Announces New Preclinical Data for BE-102, a B Cell Medicine for the Potential Treatment of Hypophosphatasia
Preclinical research demonstrates that a single administration of BE-102 provides continuous secretion of active alkaline phosphatase (ALP) in vivo out to 6 months No safety findings observed in long-term pharmacology studies Data presented at the American Society of Gene and Cell Therapy (ASGCT) 28th Annual Meeting CAMBRIDGE, Mass., May 17, 2025--(BUSINESS WIRE)--Be Biopharma, Inc. ("Be Bio"), a clinical-stage company pioneering the discovery and development of engineered B Cell Medicines (BCMs), today presented results from new preclinical research demonstrating a single administration of BE-102, a BCM for the potential treatment for Hypophosphatasia (HPP), produces continuous levels of active ALP long-term in vivo. The findings will be presented during an oral presentation at the American Society of Gene & Cell Therapy (ASGCT) 28th Annual Meeting on Saturday, May 17, at 10:45 AM CT. HPP is a genetic disease caused by deficient ALP activity, resulting from pathogenic mutations in the ALPL gene, which leads to multi-systemic clinical complications including deficient bone mineralization. Enzyme replacement therapy (ERT) is the only approved treatment for HPP which requires frequent lifelong injections, and is only available for perinatal/infantile- and juvenile-onset forms of HPP. BE-102 was developed to address these limitations by providing continuous secretion of active ALP from a single infusion, with the flexibility to be titratable and re-dosable as needed. BE-102 is manufactured from primary human B cells by isolating, activating, and precision engineering with CRISPR/Cas9 followed by AAV-mediated delivery of a DNA donor template for the insertion of human ALPL gene into the CCR5 locus (a safe harbor locus) followed by expansion and differentiation in culture into ALP-secreting B lymphocyte lineage cells. "These studies demonstrate the potential of our B cell medicine platform to deliver B cell derived active ALP with durability out to six months," said Rick Morgan, Chief Scientific Officer of Be Biopharma. "BE-102 offers a novel and durable approach that may overcome the limitations of current enzyme therapy and does not require pre-conditioning, offering flexibility for re-dosing." The presentation highlights both in vivo and in vitro data supporting the target product profile for BE-102. In vivo studies were conducted in immune-deficient NOG-hIL6 mice, confirming long-term engraftment and continuous production of B cell derived active ALP (>175 days) following a single IV administration of BE-102. No BE-102 related adverse events have been observed across multiple in vivo studies. In vitro pharmacology data presented today demonstrates that BE-102 secretes active ALP, which is capable of rescuing calcium deposit inhibited by inorganic pyrophosphate (PPi), a potent inhibitor of bone mineralization and an ALP substrate which accumulates in people with HPP. Be Bio's in vitro and in vivo pharmacology and safety data established preclinical proof-of-concept that BE-102 has the potential to be a disease-modifying therapy for people with HPP by providing continuous secretion of ALP, with the flexibility to be titratable and re-dosable as needed. A robust package of preclinical studies is planned in anticipation of submission of an IND for a first-in-human clinical trial for people with HPP. About BE-102 BE-102 is a first-in-class BCM that has been engineered using artificial intelligence-guided protein design to modify primary human B cells to produce ALP, an enzyme deficient in people living with HPP. A single infusion of BE-102 has the potential to provide continuous secretion of therapeutic ALP with the flexibility to be titrated and/or re-dosed, if needed, and without the need for pre-conditioning. BE-102 has been selected as a Development Candidate and has the potential to transform the standard of care for people living with HPP. About Engineered B Cell Medicines – A New Class of Cellular Medicines The B cell is a powerful cell that produces thousands of proteins per cell per second at constant levels, and over decades. Precision genome editing can now be used to engineer B Cells that produce therapeutic proteins of interest, driving a new class of cellular medicines – Engineered B Cell Medicines (BCMs) – with the potential to be durable, allogeneic, re-dosable, and administered without pre-conditioning. The promise of BCMs could transform therapeutic biologics with broad application — across protein classes, patient populations and therapeutic areas. About Be Biopharma Be Biopharma ("Be Bio") is pioneering Engineered B Cell Medicines (BCMs) to dramatically improve the lives of patients who are living with Hemophilia B and other genetic diseases, cancer, and other serious conditions. With eyes locked on the patient, our team of purpose-driven scientists, technologists, manufacturing experts and business builders collaborate to create a bold new class of cell therapies. Be Bio was founded in October 2020, and is backed by ARCH Venture Partners, Atlas Venture, RA Capital Management, Nextech, Alta Partners, Longwood Fund, Bristol Myers Squibb, Takeda Ventures, Seattle Children's Research Institute, Pathway to Cures (the venture philanthropy fund for the National Bleeding Disorders Foundation) and others to re-imagine medicine based on the power of Engineered B cells. For more information, please visit us at and our LinkedIn page. 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Time Magazine
15-05-2025
- Health
- Time Magazine
A Baby Receives the First Customized CRISPR Treatment
Gene therapy has always held enormous promise to correct genetic diseases, but turning that potential into treatments has been challenging. In a study New England Journal of Medicine and presented at the American Society of Gene and Cell Therapy, researchers led by teams at Children's Hospital of Philadelphia and University of Pennsylvania report on the first use of the gene-editing technology CRISPR in a customized therapy designed to treat one patient with a rare disease. CRISPR is already approved by the U.S. Food and Drug Administration (FDA) to treat sickle-cell anemia and beta thalassemia, in which patients receive the same gene therapy to treat an abnormality in their red blood cells. In the latest case, the scientists developed a CRISPR treatment for a boy named KJ, who was born with genetic mutations in his liver cells that prevent him from breaking down proteins properly. As a result, ammonia builds up in his body, which can be toxic to the brain, potentially leading to developmental delays. Led by professor of medicine Dr. Kiran Musunuru at University of Pennsylvania, and Dr. Rebecca Ahrens-Nicklas, director of the Gene Therapy for the Inherited Metabolic Disorders Frontier Program at Children's Hospital of Philadelphia, the scientists designed a CRISPR gene therapy to specifically address one of KJ's mutations. 'This drug was designed and made for KJ, so in reality this drug will probably never be used again,' says Ahrens-Nicklas of the bespoke nature of the therapy. While the therapy was created for him, the team is hopeful that the process can be made more universal and applied to other genetic mutations, for which they can plug in the appropriate genetic change to correct a disease. KJ's treatment also differs in a few important ways from the approved CRISPR gene-editing treatment for sickle-cell anemia and beta thalassemia. That treatment involves removing cells responsible for generating blood cells from a patient, then genetically editing them using CRISPR to turn on a gene that makes fetal hemoglobin, which is normally turned off in adults. Once the blood stem cells are edited, they are then re-infused back into the patient. The idea is that these cells would start to make more copies of themselves and eventually generate enough healthy red blood cells to minimize or even eliminate the painful symptoms that patients experience. In KJ's case, CRISPR was moved from the lab into his own body. The work built on research Musunuru has been conducting to fix a genetic mutation in the PCSK9 gene responsible for increasing LDL cholesterol in some people. The mutation prevents their liver from pulling LDL cholesterol from the blood, which increases the risk of heart events for these patients. He and his team have been developing a therapy to not just turn on or turn off a gene using CRISPR, but to correct that gene by switching out one base pair in its DNA sequence, which is faulty, and replacing it with another base pair to restore the gene back to a normal state. In animals and early studies in people, the CRISPR therapy is successfully lowering cholesterol. 'As this work was taking off in the summer of 2021, we wondered about the ability to make changes in the liver and heal patients with other diseases, particularly rare diseases,' says Musunuru. 'The same [CRISPR] technology used to turn off cholesterol genes could be used to correct misspellings in genes that cause other diseases.' After connecting with Ahrens-Nicklas, it took two years for both teams—who also worked with companies including Aldevron, Integrated DNA Technologies (IDT), Acuitas Therapeutics, and Danaher Corporation—to figure out how to correct some of these misspellings responsible for rare diseases that threaten infants like KJ. The unique group of academic and company scientists was assembled with the help of scientists at the Innovative Genomics Institute at the University of California, Berkeley, which was created by CRISPR co-discoverer Jennifer Doudna. Aldevron took on the task of producing the actual CRISPR gene therapy product that KJ received, combining the RNA genetic sequence targeting KJ's mutation, along with a guide RNA from IDT that directed the CRISPR to the right genetic sequence in KJ's liver cells. The lipid nanoparticle from Acuitas delivered the therapy. And even though it was intended for just one patient, the treatment also had to receive clearance from the U.S. Food and Drug Administration. Because it was so new, Ahrens-Nicklas and Musunuru decided to start KJ on a low dose of the gene-editing therapy when he was six months old, monitor his response for any adverse effects, and then provide two additional higher doses if all went well. He just received his third and final dose, and so far, seems to be responding. 'All of the milestones he is reaching, all of the developmental moments he is reaching, shows us that things are working,' said Nicole Muldoon, KJ's mother, during briefing. 'The prognosis for him was very different before we started talking about gene editing. We were talking more about comfort care, a liver transplant, and very severe delays due to the ammonia buildup and damage that could bring.' Ahrens-Nicklas says it's too early to tell exactly how effective the CRISPR therapy is. Because it's too risky, the medical team is not planning to biopsy KJ's liver to determine how many of his liver cells have been corrected by the CRISPR machinery. But they are monitoring other metrics to gauge its effectiveness, including his ammonia levels and measures of certain amino acids—like glutamine, which helps to break down proteins. 'We don't know how much benefit KJ received from this [therapy],' she says. 'But the early signs are that he is probably a little more mild than he was going into [this treatment]. He had the most severe form of the most severe urea cycle disorder, and he is doing better at this point than we anticipate for someone with the most severe form of [this disease].' She and Musunura plan to learn from KJ's case, with an eye toward scaling up the platform to address other genetic disorders and shortening the time it takes to produce the customized therapy. In diseases like KJ's, providing the treatment as early as possible reduces the chances of long-term damage and symptoms. 'I don't think I'm exaggerating when I say that this is the future of medicine,' says Musunuru. "This is the first step toward using gene-editing therapies to treat a wide variety of rare genetic diseases for which there are currently no definitive medication treatments and in some cases, no treatments in development at all. We are showing it's possible to make a personalized gene-editing therapy for a single patient in real time, and hope it inspires others to do the same. Some day, no rare disease patient will die prematurely from a misspelling in their genes that we are able to correct.'
Business Wire
15-05-2025
- Business
- Business Wire
Rocket Pharmaceuticals Presents Preliminary Data from Phase 1 Clinical Trial of RP-A601 for PKP2 Arrhythmogenic Cardiomyopathy at 28th Annual Meeting of the American Society of Gene and Cell Therapy
BUSINESS WIRE)-- Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT), a fully integrated, late-stage biotechnology company advancing a sustainable pipeline of genetic therapies for rare disorders with high unmet need, today announced preliminary data from the Phase 1 clinical trial of RP-A601 for the treatment of plakophilin-2 related arrhythmogenic cardiomyopathy (PKP2-ACM). RP-A601 showed a well-tolerated safety profile with no dose-limiting toxicities, increased PKP2 protein expression, and preliminary indications of improvement or stabilization in arrhythmia burden, heart function, and quality of life in all three patients followed for up to 12 months. Results were presented today as a late-breaking oral presentation at the Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) and will be discussed on a company webinar today at 4:30 p.m. ET. 'Preliminary data from the Phase 1 study of RP-A601 for PKP2-ACM are highly encouraging, signaling potential clinical benefit along with a generally well-tolerated safety profile,' said Gaurav Shah, M.D., Chief Executive Officer of Rocket Pharma. 'These initial results represent the second gene therapy from our AAV cardiovascular portfolio to show positive clinical data, propelling us one step closer towards our mission of delivering potentially curative treatments to patients with rare and devastating heart conditions.' The preliminary safety and efficacy of RP-A601 were evaluated in a single-arm, open-label, multi-center Phase 1 study in three patients with PKP2-ACM who received a dose of 8x10 13 GC/kg. Initial data from the Phase 1 study (safety cut-off May 6, 2025; efficacy cut-off April 2025) showed that RP-A601 was generally well-tolerated with no dose-limiting toxicities observed in all patients followed for up to 12 months. Most treatment emergent adverse events were mild/moderate in severity and self-limited with only one patient experiencing severe adverse events which resolved without clinical sequelae within two months post-treatment, believed to be associated with the immunomodulatory regimen. Cardiac biopsies showed RP-A601 increased PKP2 protein expression in all three patients. In the patients with low baseline PKP2 expression (N=2), improvements in PKP2 protein expression relative to total cell protein were approximately 110% and 398%, respectively, from baseline to six months follow-up. In addition, RP-A601 increased protein expression and promoted desmosomal localization of PKP2, Desmocollin-2, and Cadherin-2 in all three patients. Preliminary indications of improvement or stabilization were observed in arrhythmia burden, heart function, and quality of life. Patients in the Phase 1 trial also demonstrated: Improvements/stabilization in right ventricular (RV) function. All patients showed normal RV systolic function at most recent follow-up. Improvements in quality-of-life as assessed through the Kansas City Cardiomyopathy Questionnaire (KCCQ) and New York Heart Association (NYHA) Class. Clinical improvement in KCCQ-12 score of 34-41 points (≥5 point increases considered clinically meaningful in adults) and improved NYHA class (from Class II at baseline to Class I; NYHA Class I reflects the absence of clinical signs of heart failure) in both patients followed beyond six months. Decreased/stabilized ventricular ectopy (premature ventricular contractions [PVC], non-sustained ventricular tachycardia [NSVT]) on rhythm monitoring. Patients experienced a 9% to 63% reduction in PVCs from baseline evaluated six to 12 months post-treatment. The only patient who had baseline NSVTs saw a decrease from five to zero NSVT episodes per 24-hour period at six months post-treatment. Decreased/stabilized T-wave inversions on electrocardiogram (ECG). One patient saw a reduction in ECG leads with T-wave inversions (precordial and inferior ECG) from six to two at six months post-treatment. Investor Webcast Information Company management will host a webinar today, May 15, 2025, at 4:30 p.m. ET. To join the investor webinar, please register at The webcast is available under 'Events' in the Investors section of the Company's website at: The webcast replay will be available on the Rocket website upon completion of the event. About RP-A601 RP-A601 is an investigational gene therapy for the treatment of plakophilin-2 related arrhythmogenic cardiomyopathy (PKP2-ACM). RP-A601 consists of a recombinant adeno-associated serotype rh74 capsid containing a functional version of the human PKP2 transgene ( which is administered as a single intravenous (IV) infusion. RP-A601 is being investigated as a one-time, potentially curative gene therapy treatment that may improve survival and quality of life for patients affected by PKP2-ACM. Rocket holds Fast Track designation in the U.S. and Orphan Drug designation in the U.S. and Europe for the program. About PKP2-Arrhythmogenic Cardiomyopathy (PKP2-ACM) PKP2-ACM is an inherited heart disease caused by mutations in the PKP2 gene and characterized by life-threatening ventricular arrhythmias, cardiac structural abnormalities, and sudden cardiac death. PKP2-ACM affects approximately 50,000 adults and children in the U.S. and Europe. Patients living with PKP2-ACM have an urgent unmet medical need, as current medical, implantable cardioverter defibrillator (ICD), and ablation therapies do not consistently prevent disease progression or arrhythmia recurrence, are associated with significant morbidity including inappropriate shocks and device and procedure-related complications, and do not address the underlying pathophysiology or genetic mutation. About Rocket Pharmaceuticals, Inc. Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT) is a fully integrated, late-stage biotechnology company advancing a sustainable pipeline of investigational genetic therapies designed to correct the root cause of complex and rare disorders. Rocket's innovative multi-platform approach allows us to design the optimal gene therapy for each indication, creating potentially transformative options that enable people living with devastating rare diseases to experience long and full lives. Rocket's adeno-associated viral (AAV) vector-based cardiovascular portfolio includes a late-stage program for Danon Disease, a devastating heart failure condition resulting in thickening of the heart, an early-stage program in clinical trials for PKP2-arrhythmogenic cardiomyopathy (ACM), a life-threatening heart failure disease causing ventricular arrhythmias and sudden cardiac death, and a pre-clinical program targeting BAG3-associated dilated cardiomyopathy (DCM), a heart failure condition that causes enlarged ventricles. Rocket's lentiviral (LV) vector-based hematology portfolio consists of late-stage programs for Fanconi Anemia (FA), a difficult-to-treat genetic disease that leads to bone marrow failure (BMF) and potentially cancer, Leukocyte Adhesion Deficiency-I (LAD-I), a severe pediatric genetic disorder that causes recurrent and life-threatening infections which are frequently fatal, and Pyruvate Kinase Deficiency (PKD), a monogenic red blood cell disorder resulting in increased red cell destruction and mild to life-threatening anemia. For more information about Rocket, please visit and follow us on LinkedIn, YouTube, and X. Rocket Cautionary Statement Regarding Forward-Looking Statements This press release contains forward-looking statements concerning Rocket's future expectations, plans and prospects that involve risks and uncertainties, as well as assumptions that, if they do not materialize or prove incorrect, could cause our results to differ materially from those expressed or implied by such forward-looking statements. We make such forward-looking statements pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995 and other federal securities laws. All statements other than statements of historical facts contained in this release are forward-looking statements. You should not place reliance on these forward-looking statements, which often include words such as 'could,' 'believe,' 'expect,' 'anticipate,' 'intend,' 'plan,' 'will give,' 'estimate,' 'seek,' 'will,' 'may,' 'suggest' or similar terms, variations of such terms or the negative of those terms. These forward-looking statements include, but are not limited to, statements concerning Rocket's expectations regarding the safety and effectiveness of product candidates that Rocket is developing to treat Fanconi Anemia (FA), Leukocyte Adhesion Deficiency-I (LAD-I), Pyruvate Kinase Deficiency (PKD), Danon Disease (DD) and other diseases, the expected timing and data readouts of Rocket's ongoing and planned clinical trials, the expected timing and outcome of Rocket's regulatory interactions and planned submissions, including the timing and outcome of the FDA's review of the additional CMC information that Rocket will provide in response to the FDA's request, the safety, effectiveness and timing of pre-clinical studies and clinical trials, Rocket's ability to establish key collaborations and vendor relationships for its product candidates, Rocket's ability to develop sales and marketing capabilities or enter into agreements with third parties to sell and market its product candidates, Rocket's ability to expand its pipeline to target additional indications that are compatible with its gene therapy technologies, Rocket's ability to transition to a commercial stage pharmaceutical company, and Rocket's expectation that its cash, cash equivalents and investments will be sufficient to funds its operations into the fourth quarter of 2026. Although Rocket believes that the expectations reflected in the forward-looking statements are reasonable, Rocket cannot guarantee such outcomes. Actual results may differ materially from those indicated by these forward-looking statements as a result of various important factors, including, without limitation, Rocket's dependence on third parties for development, manufacture, marketing, sales and distribution of product candidates, the outcome of litigation, unexpected expenditures, Rocket's competitors' activities, including decisions as to the timing of competing product launches, pricing and discounting, Rocket's ability to develop, acquire and advance product candidates into, enroll a sufficient number of patients into, and successfully complete, clinical studies, the integration of new executive team members and the effectiveness of the newly configured corporate leadership team, Rocket's ability to acquire additional businesses, form strategic alliances or create joint ventures and its ability to realize the benefit of such acquisitions, alliances or joint ventures, Rocket's ability to obtain and enforce patents to protect its product candidates, and its ability to successfully defend against unforeseen third-party infringement claims, as well as those risks more fully discussed in the section entitled 'Risk Factors' in Rocket's Annual Report on Form 10-K for the year ended December 31, 2024, filed February 27, 2025 with the SEC and subsequent filings with the SEC including our Quarterly Reports on Form 10-Q. Accordingly, you should not place undue reliance on these forward-looking statements. All such statements speak only as of the date made, and Rocket undertakes no obligation to update or revise publicly any forward-looking statements, whether as a result of new information, future events or otherwise.
Yahoo
15-05-2025
- Business
- Yahoo
Rocket Pharmaceuticals Presents Preliminary Data from Phase 1 Clinical Trial of RP-A601 for PKP2 Arrhythmogenic Cardiomyopathy at 28th Annual Meeting of the American Society of Gene and Cell Therapy
RP-A601 was generally well-tolerated at a dose of 8.0E13 GC/kg with no dose-limiting toxicities in all three patients with up to 12 months follow-up RP-A601 promoted increased protein expression and desmosomal localization of Plakophilin-2 (PKP2), Desmocollin-2, and Cadherin-2 in all three patients Improvement or stabilization observed in arrhythmia burden, heart function, and quality of life in all patients No further dose escalation planned Investor webinar to be held later today at 4:30 p.m. ET CRANBURY, N.J., May 15, 2025--(BUSINESS WIRE)--Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT), a fully integrated, late-stage biotechnology company advancing a sustainable pipeline of genetic therapies for rare disorders with high unmet need, today announced preliminary data from the Phase 1 clinical trial of RP-A601 for the treatment of plakophilin-2 related arrhythmogenic cardiomyopathy (PKP2-ACM). RP-A601 showed a well-tolerated safety profile with no dose-limiting toxicities, increased PKP2 protein expression, and preliminary indications of improvement or stabilization in arrhythmia burden, heart function, and quality of life in all three patients followed for up to 12 months. Results were presented today as a late-breaking oral presentation at the Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) and will be discussed on a company webinar today at 4:30 p.m. ET. "Preliminary data from the Phase 1 study of RP-A601 for PKP2-ACM are highly encouraging, signaling potential clinical benefit along with a generally well-tolerated safety profile," said Gaurav Shah, M.D., Chief Executive Officer of Rocket Pharma. "These initial results represent the second gene therapy from our AAV cardiovascular portfolio to show positive clinical data, propelling us one step closer towards our mission of delivering potentially curative treatments to patients with rare and devastating heart conditions." The preliminary safety and efficacy of RP-A601 were evaluated in a single-arm, open-label, multi-center Phase 1 study in three patients with PKP2-ACM who received a dose of 8x1013 GC/kg. Initial data from the Phase 1 study (safety cut-off May 6, 2025; efficacy cut-off April 2025) showed that RP-A601 was generally well-tolerated with no dose-limiting toxicities observed in all patients followed for up to 12 months. Most treatment emergent adverse events were mild/moderate in severity and self-limited with only one patient experiencing severe adverse events which resolved without clinical sequelae within two months post-treatment, believed to be associated with the immunomodulatory regimen. Cardiac biopsies showed RP-A601 increased PKP2 protein expression in all three patients. In the patients with low baseline PKP2 expression (N=2), improvements in PKP2 protein expression relative to total cell protein were approximately 110% and 398%, respectively, from baseline to six months follow-up. In addition, RP-A601 increased protein expression and promoted desmosomal localization of PKP2, Desmocollin-2, and Cadherin-2 in all three patients. Preliminary indications of improvement or stabilization were observed in arrhythmia burden, heart function, and quality of life. Patients in the Phase 1 trial also demonstrated: Improvements/stabilization in right ventricular (RV) function. All patients showed normal RV systolic function at most recent follow-up. Improvements in quality-of-life as assessed through the Kansas City Cardiomyopathy Questionnaire (KCCQ) and New York Heart Association (NYHA) Class. Clinical improvement in KCCQ-12 score of 34-41 points (≥5 point increases considered clinically meaningful in adults) and improved NYHA class (from Class II at baseline to Class I; NYHA Class I reflects the absence of clinical signs of heart failure) in both patients followed beyond six months. Decreased/stabilized ventricular ectopy (premature ventricular contractions [PVC], non-sustained ventricular tachycardia [NSVT]) on rhythm monitoring. Patients experienced a 9% to 63% reduction in PVCs from baseline evaluated six to 12 months post-treatment. The only patient who had baseline NSVTs saw a decrease from five to zero NSVT episodes per 24-hour period at six months post-treatment. Decreased/stabilized T-wave inversions on electrocardiogram (ECG). One patient saw a reduction in ECG leads with T-wave inversions (precordial and inferior ECG) from six to two at six months post-treatment. Investor Webcast InformationCompany management will host a webinar today, May 15, 2025, at 4:30 p.m. ET. To join the investor webinar, please register at The webcast is available under "Events" in the Investors section of the Company's website at: The webcast replay will be available on the Rocket website upon completion of the event. About RP-A601RP-A601 is an investigational gene therapy for the treatment of plakophilin-2 related arrhythmogenic cardiomyopathy (PKP2-ACM). RP-A601 consists of a recombinant adeno-associated serotype rh74 capsid containing a functional version of the human PKP2 transgene ( which is administered as a single intravenous (IV) infusion. RP-A601 is being investigated as a one-time, potentially curative gene therapy treatment that may improve survival and quality of life for patients affected by PKP2-ACM. Rocket holds Fast Track designation in the U.S. and Orphan Drug designation in the U.S. and Europe for the program. About PKP2-Arrhythmogenic Cardiomyopathy (PKP2-ACM)PKP2-ACM is an inherited heart disease caused by mutations in the PKP2 gene and characterized by life-threatening ventricular arrhythmias, cardiac structural abnormalities, and sudden cardiac death. PKP2-ACM affects approximately 50,000 adults and children in the U.S. and Europe. Patients living with PKP2-ACM have an urgent unmet medical need, as current medical, implantable cardioverter defibrillator (ICD), and ablation therapies do not consistently prevent disease progression or arrhythmia recurrence, are associated with significant morbidity including inappropriate shocks and device and procedure-related complications, and do not address the underlying pathophysiology or genetic mutation. About Rocket Pharmaceuticals, Pharmaceuticals, Inc. (NASDAQ: RCKT) is a fully integrated, late-stage biotechnology company advancing a sustainable pipeline of investigational genetic therapies designed to correct the root cause of complex and rare disorders. Rocket's innovative multi-platform approach allows us to design the optimal gene therapy for each indication, creating potentially transformative options that enable people living with devastating rare diseases to experience long and full lives. Rocket's adeno-associated viral (AAV) vector-based cardiovascular portfolio includes a late-stage program for Danon Disease, a devastating heart failure condition resulting in thickening of the heart, an early-stage program in clinical trials for PKP2-arrhythmogenic cardiomyopathy (ACM), a life-threatening heart failure disease causing ventricular arrhythmias and sudden cardiac death, and a pre-clinical program targeting BAG3-associated dilated cardiomyopathy (DCM), a heart failure condition that causes enlarged ventricles. Rocket's lentiviral (LV) vector-based hematology portfolio consists of late-stage programs for Fanconi Anemia (FA), a difficult-to-treat genetic disease that leads to bone marrow failure (BMF) and potentially cancer, Leukocyte Adhesion Deficiency-I (LAD-I), a severe pediatric genetic disorder that causes recurrent and life-threatening infections which are frequently fatal, and Pyruvate Kinase Deficiency (PKD), a monogenic red blood cell disorder resulting in increased red cell destruction and mild to life-threatening anemia. For more information about Rocket, please visit and follow us on LinkedIn, YouTube, and X. Rocket Cautionary Statement Regarding Forward-Looking StatementsThis press release contains forward-looking statements concerning Rocket's future expectations, plans and prospects that involve risks and uncertainties, as well as assumptions that, if they do not materialize or prove incorrect, could cause our results to differ materially from those expressed or implied by such forward-looking statements. We make such forward-looking statements pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995 and other federal securities laws. All statements other than statements of historical facts contained in this release are forward-looking statements. You should not place reliance on these forward-looking statements, which often include words such as "could," "believe," "expect," "anticipate," "intend," "plan," "will give," "estimate," "seek," "will," "may," "suggest" or similar terms, variations of such terms or the negative of those terms. These forward-looking statements include, but are not limited to, statements concerning Rocket's expectations regarding the safety and effectiveness of product candidates that Rocket is developing to treat Fanconi Anemia (FA), Leukocyte Adhesion Deficiency-I (LAD-I), Pyruvate Kinase Deficiency (PKD), Danon Disease (DD) and other diseases, the expected timing and data readouts of Rocket's ongoing and planned clinical trials, the expected timing and outcome of Rocket's regulatory interactions and planned submissions, including the timing and outcome of the FDA's review of the additional CMC information that Rocket will provide in response to the FDA's request, the safety, effectiveness and timing of pre-clinical studies and clinical trials, Rocket's ability to establish key collaborations and vendor relationships for its product candidates, Rocket's ability to develop sales and marketing capabilities or enter into agreements with third parties to sell and market its product candidates, Rocket's ability to expand its pipeline to target additional indications that are compatible with its gene therapy technologies, Rocket's ability to transition to a commercial stage pharmaceutical company, and Rocket's expectation that its cash, cash equivalents and investments will be sufficient to funds its operations into the fourth quarter of 2026. Although Rocket believes that the expectations reflected in the forward-looking statements are reasonable, Rocket cannot guarantee such outcomes. Actual results may differ materially from those indicated by these forward-looking statements as a result of various important factors, including, without limitation, Rocket's dependence on third parties for development, manufacture, marketing, sales and distribution of product candidates, the outcome of litigation, unexpected expenditures, Rocket's competitors' activities, including decisions as to the timing of competing product launches, pricing and discounting, Rocket's ability to develop, acquire and advance product candidates into, enroll a sufficient number of patients into, and successfully complete, clinical studies, the integration of new executive team members and the effectiveness of the newly configured corporate leadership team, Rocket's ability to acquire additional businesses, form strategic alliances or create joint ventures and its ability to realize the benefit of such acquisitions, alliances or joint ventures, Rocket's ability to obtain and enforce patents to protect its product candidates, and its ability to successfully defend against unforeseen third-party infringement claims, as well as those risks more fully discussed in the section entitled "Risk Factors" in Rocket's Annual Report on Form 10-K for the year ended December 31, 2024, filed February 27, 2025 with the SEC and subsequent filings with the SEC including our Quarterly Reports on Form 10-Q. Accordingly, you should not place undue reliance on these forward-looking statements. All such statements speak only as of the date made, and Rocket undertakes no obligation to update or revise publicly any forward-looking statements, whether as a result of new information, future events or otherwise. View source version on Contacts Investors Meg Dodgemdodge@ Media Kevin Giordanomedia@ Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
15-05-2025
- Health
Doctors save baby's life with first-ever gene fix for deadly rare disease
Just six months after a newborn at Children's Hospital of Philadelphia was diagnosed with a rare and life-threatening metabolic disorder, doctors were able to develop a personalized treatment involving a first-of-its-kind approach to gene-editing that could end up changing the course of his life -- and help others with rare diseases in the future. The metabolic condition, called carbamoyl-phosphate synthetase 1 deficiency, affects the urea cycle and can cause deadly levels of ammonia to build up in the blood, leading to severe and permanent brain damage. It affects about 1 in 1.3 million people. Among babies diagnosed with it, the disease kills 50% of them by early infancy. The baby at the Philadelphia hospital "had the most severe variant of the most severe metabolic condition related to the urea cycle," Dr. Ahrens-Nicklas, the study's lead author and a metabolic pediatrician within the metabolic disease program and the division of human genetics at Children's Hospital of Philadelphia, told ABC News. "This meant that we had to expedite the pathway for personalized therapy we were already working on." While a liver transplant can improve outcomes, many infants develop issues related to the high levels of ammonia in their blood that can lead to neurological complications such as developmental delay, intellectual disability, and severe brain swelling or damage, before they are large enough to get a liver transplant. The treatment, described in a new study published in The New England Journal of Medicine and presented at the American Society of Gene and Cell Therapy meeting, relies on a complex therapy known as CRISPR, a powerful gene-editing tool. CRISPR works like a pair of molecular scissors, allowing scientists to precisely slice and repair faulty genes. Using CRISPR, the team was able to create a treatment tailored to the baby's specific genetic mutation. Doctors began the process by creating a streamlined approach to base-editing therapy, a technique where a single component of the baby's genome specific was changed to match the variant of his condition. Doctors then delivered the altered DNA directly to liver cells using a lipid nanoparticle -- a tiny, fat-based carrier that helps transport treatment to the right place in the body. This approach was designed specifically for this single patient and marks a major step forward in personalized medicine. The goal is to reuse key parts of the treatment -- like the lipid nanoparticle and mRNA -- and simply swap in a custom set of instructions for each patient's specific gene mutation, Ahrens-Nicklas explained. "Think of it like a GPS signal," Dr. Kiran Musunuru, director of the Penn Cardiovascular Institute's Genetic and Epigenetic Origins of Disease Program, told ABC News. "You can change where the GPS is going depending on what specific sequence of genes you want to change." This new approach to gene editing could lead to faster personalized therapies for this and other rare diseases. Another advantage, the doctors pointed out, is that it can be given again later in life should the patient require it, unlike other delivery systems. Of note, the therapy was developed within just six months of the baby's birth. The child received two infusions at 7 and 8 months, respectively. At the seven-week follow-up, the patient was then able to receive more dietary protein and reduce the dose the medication dose by 50% with no bad side effects. This development is giving doctors hope for patients with rare genetic disease who would otherwise have no other treatment options, Musunuru said. "The next steps would be to build genomic centers of excellence where patients can get unique therapies created for them in real time" he said.
