Latest news with #Angelman
Business Wire
11-07-2025
- Health
- Business Wire
Oak Hill Bio Announces Publication of Rugonersen Phase 1 Study Results in Nature Medicine
CAMBRIDGE, Mass.--(BUSINESS WIRE)--Oak Hill Bio, a biotechnology company focused on developing life-changing therapies for people with rare diseases, today announced the publication in Nature Medicine of the results of the rugonersen Phase 1 TANGELO study in 1 to 12 year old children with Angelman syndrome.1 Oak Hill Bio recently obtained exclusive rights to rugonersen and plans to initiate a Phase 3 study in patients with Angelman syndrome in early 2026. The results published today (The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial, Hipp et al., Nature Medicine, DOI 10.1038/s41591-025-03784-7) showed adverse event rates for rugonersen consistent with other antisense oligonucleotides, the route of administration, and the patient population. The results also showed that treatment with rugonersen led to dose-dependent partial normalization of pathological brain activity on a pharmacodynamic biomarker of brain function, electroencephalogram (EEG) delta power, and improvements on multiple exploratory endpoints measuring the core symptoms of Angelman syndrome as compared to natural history. The safety and tolerability profile, as well as the encouraging pharmacodynamic and exploratory clinical effects observed in TANGELO, provide strong support for further testing of rugonersen for the treatment of Angelman syndrome. 'These promising results further support our decision to license exclusive rights to rugonersen. We are proud to support the continued development of this potential new treatment option," said Josh Distler, CEO of Oak Hill Bio. Share Angelman syndrome is caused by lack of the protein UBE3A in neurons due to a genetic defect on the maternal allele. UBE3A is expressed only from the maternal allele in neurons, while the paternal allele is silenced (imprinted) by a long non-coding antisense transcript (UBE3A-ATS) that interferes with the transcription of UBE3A from the paternal allele. Rugonersen (OHB-724) is designed to restore expression of UBE3A by suppressing the UBE3A-ATS transcript, thereby leveraging the intact paternal allele. TANGELO was a Phase 1, multicenter, open-label, multiple ascending, intra-patient dose escalation study that enrolled 61 patients aged 1-12 years with Angelman syndrome (mutation and deletion genotypes). In TANGELO, rugonersen led to a dose-dependent reduction in EEG delta power—a biomarker of abnormal brain activity in Angelman syndrome that has been shown to correlate with functional outcomes. The dynamics of the EEG biomarker provide robust pharmacodynamic data to inform the dose regimen of the planned Phase 3 trial. Exploratory clinical efficacy on developmental skills was assessed using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III), and the Vineland Adaptive Behavior Scales, Third Edition (Vineland). Four out of five behavioral domains tested by the Bayley-III and all five of the Vineland domains analyzed showed developmental gains above expectations from natural history. Of these results, most gains in developmental ability approached or surpassed thresholds for minimal clinically important group differences. 'These are promising results that mark a major milestone in the development of disease-modifying therapies for Angelman syndrome,' said Dr. Mark Shen, Assistant Professor of Neuroscience and Psychiatry at the University of North Carolina School of Medicine and one of the principal investigators and authors of the paper. 'In this paper, we have shown that an investigational treatment targeting the root cause of a genetic neurodevelopmental disorder can improve both brain activity and behavioral symptoms as compared to natural history in a consistent and measurable way.' 'Although these results are exploratory, rugonersen shows promise based upon the evidence published today of improvements in both a neurophysiologic biomarker and functional endpoints in individuals with Angelman syndrome,' said Dr. Wen-Hann Tan, Attending Physician, Division of Genetics and Genomics at Boston Children's Hospital and Associate Professor of Pediatrics at Harvard Medical School, an expert on Angelman syndrome, who was not involved in the study. 'These results provide support for further investigation of rugonersen and UBE3A-targeting strategies in randomized controlled trials and highlight the potential value of EEG as a biomarker.' Angelman syndrome affects an estimated 500,000 individuals worldwide. It typically presents during early childhood and is characterized by cognitive and developmental issues, including speech and communication difficulties, motor impairment, balance issues, and debilitating seizures. Rugonersen was generally well tolerated across more than 450 intrathecal administrations among 61 participants, some of whom received treatment for up to four years. The most common adverse events (AEs) were transient pyrexia and vomiting, typically occurring shortly after dosing. Serious adverse events (SAEs) were experienced by 34% of participants and those deemed related to treatment occurred in 13% of participants (or 2% of administrations). Treatment-related SAEs included seizure, epilepsy, vomiting, pyrexia and post-lumbar puncture syndrome. No participants were withdrawn from the study due to AEs. 'These promising results further support our decision to license exclusive rights to rugonersen. We are proud to support the continued development of this potential new treatment option and are deeply appreciative of the patients, families, and investigators whose commitment made this work possible,' said Josh Distler, Chief Executive Officer of Oak Hill Bio. 'This publication in Nature Medicine reflects the strength of the science and the importance of advancing treatments that can meaningfully improve the lives of people living with Angelman syndrome and their families.' About Oak Hill Bio Oak Hill Bio is a clinical-stage biotechnology company dedicated to developing life-changing therapies for people with rare diseases. Its pipeline includes late-stage programs in Angelman syndrome and complications of extreme prematurity, as well as a preclinical asset for diabetic macular edema. For more information, visit _________________________ 1 This study was sponsored and conducted by Roche. Expand
Yahoo
12-06-2025
- Business
- Yahoo
Ionis doses first subject in Phase III trial of Angelman syndrome therapy
Ionis Pharmaceuticals has dosed the first subject in the global, randomised Phase III REVEAL trial of investigational ION582, aimed at treating individuals with Angelman syndrome (AS), a rare neurodevelopmental disorder. The placebo-controlled, double-blind trial will recruit nearly 200 AS adults and children with a maternal UBE3A gene deletion or mutation. Over a 52-week treatment period, subjects will be randomised in a 2:1 ratio and given either the therapy or a placebo. Quarterly doses of either 40mg or 80mg of ION582 will be administered to those in the active treatment groups. After the initial treatment phase, eligible subjects will have the opportunity to enter a long-term extension segment of the trial, where the therapy will be administered for up to two years. The primary goal of the trial is to assess improvements in expressive communication using the Bayley Scales for Infant and Toddler Development-4 (Bayley-4), a direct clinician-administered assessment tool. Expressive communication deficits are notably the most burdensome symptoms for caregivers of individuals with AS. The trial will also evaluate secondary endpoints, including overall disease severity, communication, cognition, motor functioning, sleep, and daily living skills, as well as other exploratory endpoints. ION582 has previously shown promise in the multiple ascending dose (MAD) portion of the Phase I/II open-label HALOS trial, demonstrating clinical improvement across various functional domains such as cognition, motor function, and communication. The RNA-targeted antisense medicine, ION582, works by inhibiting the expression of the UBE3A antisense transcript (UBE3A-ATS) to potentially increase the UBE3A protein production, to treat AS. Ionis Pharmaceuticals neurology senior vice-president Holly Kordasiewicz: 'This placebo-controlled study will evaluate ION582 in both children and adults with either UBE3A deletion or mutation and builds on earlier encouraging findings from our Phase I/II HALOS study. 'With ION582, we continue to advance our leading wholly owned neurology pipeline, which includes eight medicines in clinical development across a range of rare and more prevalent diseases.' Last year, Ionis announced the design for the Phase III trial of ION582 for the treatment of AS, following discussions with the US Food and Drug Administration. "Ionis doses first subject in Phase III trial of Angelman syndrome therapy" was originally created and published by Clinical Trials Arena, a GlobalData owned brand. The information on this site has been included in good faith for general informational purposes only. It is not intended to amount to advice on which you should rely, and we give no representation, warranty or guarantee, whether express or implied as to its accuracy or completeness. You must obtain professional or specialist advice before taking, or refraining from, any action on the basis of the content on our site. 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
Business Wire
11-06-2025
- Business
- Business Wire
First patient dosed in pivotal Phase 3 REVEAL clinical study of ION582 in Angelman syndrome
CARLSBAD, Calif.--(BUSINESS WIRE)-- Ionis Pharmaceuticals, Inc. (Nasdaq: IONS) today announced that the first participant has been dosed in the global Phase 3 REVEAL study, which is designed to evaluate the efficacy and safety of ION582, an investigational medicine for the treatment of people living with Angelman syndrome (AS), a serious and rare neurodevelopmental disorder that leads to significant physical and cognitive impairments. 'Dosing the first person with Angelman syndrome in our pivotal REVEAL study marks an important milestone for this underserved community, who currently have no approved disease modifying treatments,' said Holly Kordasiewicz, Ph.D., senior vice president of neurology, Ionis. 'This placebo-controlled study will evaluate ION582 in both children and adults with either UBE3A deletion or mutation and builds on earlier encouraging findings from our Phase 1/2 HALOS study. This milestone reflects our commitment to those impacted by Angelman syndrome and builds on our legacy of innovation in neurology including the development of SPINRAZA and QALSODY. With ION582, we continue to advance our leading wholly owned neurology pipeline, which includes eight medicines in clinical development across a range of rare and more prevalent diseases.' REVEAL (NCT06914609) is a global, randomized, double-blind, placebo-controlled Phase 3 study that will enroll approximately 200 children and adults with AS that have a maternal UBE3A gene deletion or mutation. During the 52-week treatment period, participants will be randomized 2:1 to receive either ION582 or placebo. Participants in the active treatment groups will receive quarterly 40 mg or 80 mg doses of ION582. Following the treatment period, eligible participants will transition into the long-term extension portion of the study where all participants will receive ION582 for up to 2 years. The primary endpoint is improvement in expressive communication as assessed by the Bayley Scales for Infant and Toddler Development-4 (Bayley-4), an objective and direct clinician-administered assessment of clinical functioning. Deficits in expressive communication are reported to be the symptoms most challenging to caregivers of people with AS. Secondary endpoints include overall disease severity, cognition, communication, sleep, motor functioning and daily living skills, in addition to other exploratory endpoints. In the completed multiple ascending dose (MAD) portion of the Phase 1/2 open-label HALOS study, ION582 provided consistent and encouraging clinical improvement on all functional domains including communication, cognition and motor function and showed favorable safety and tolerability at all dose levels in the study. For more information on the REVEAL clinical study, please visit and About ION582 ION582 is an investigational RNA-targeted antisense medicine designed to inhibit the expression of the UBE3A antisense transcript (UBE3A-ATS) and increase production of UBE3A protein, for the potential treatment of Angelman syndrome (AS). The U.S. Food and Drug Administration (FDA) and European Medicines Agency (EMA) granted Orphan Drug designation to ION582. Additionally, the FDA granted Fast Track and Rare Pediatric designations to ION582. About Angelman Syndrome (AS) AS is a rare, genetic neurological disease that affects an estimated 1 in 21,000 people worldwide and is caused by the loss of function of the maternally inherited UBE3A gene. AS typically presents in infancy and is characterized by profound intellectual disability, balance issues, motor impairment and debilitating seizures. Most people with AS are unable to speak. Individuals with AS have a normal lifespan but require complete care from a caregiver. Some symptoms can be managed with existing medicines; however, there are no approved disease modifying therapies. About Ionis Neurology Ionis has been at the forefront of discovering and developing leading neurological disease medicines, including SPINRAZA ® (nusinersen), the first approved treatment for spinal muscular atrophy, WAINUA™ (eplontersen), a medicine to treat hereditary transthyretin-mediated amyloid polyneuropathy (ATTRv-PN), and QALSODY ® (tofersen) for SOD1-ALS. The clinical-stage portfolio includes 13 therapies, of which eight are wholly owned by Ionis. Ionis' investigational portfolio includes medicines for which there are few or no disease modifying treatments, such as rare diseases including Prion disease and Alexander disease and more common conditions such as Alzheimer's and Parkinson's disease. About Ionis Pharmaceuticals, Inc. For three decades, Ionis has invented medicines that bring better futures to people with serious diseases. Ionis currently has six marketed medicines and a leading pipeline in neurology, cardiology, and select areas of high patient need. As the pioneer in RNA-targeted medicines, Ionis continues to drive innovation in RNA therapies in addition to advancing new approaches in gene editing. A deep understanding of disease biology and industry-leading technology propels our work, coupled with a passion and urgency to deliver life-changing advances for patients. To learn more about Ionis, visit and follow us on X (Twitter), LinkedIn and Instagram. Ionis Forward-looking Statements This press release includes forward-looking statements regarding Ionis' business and the therapeutic and commercial potential of ION582, our commercial medicines, additional medicines in development and technologies. Any statement describing Ionis' goals, expectations, financial or other projections, intentions or beliefs is a forward-looking statement and should be considered an at-risk statement. Such statements are subject to certain risks and uncertainties including those inherent in the process of discovering, developing and commercializing medicines that are safe and effective for use as human therapeutics, and in the endeavor of building a business around such medicines. Ionis' forward-looking statements also involve assumptions that, if they never materialize or prove correct, could cause its results to differ materially from those expressed or implied by such forward-looking statements. Although Ionis' forward-looking statements reflect the good faith judgment of its management, these statements are based only on facts and factors currently known by Ionis. Except as required by law, we undertake no obligation to update any forward-looking statements for any reason. As a result, you are cautioned not to rely on these forward-looking statements. These and other risks concerning Ionis' programs are described in additional detail in Ionis' annual report on Form 10-K for the year ended December 31, 2024, and most recent Form 10-Q, which are on file with the Securities and Exchange Commission. Copies of these and other documents are available from the Company. In this press release, unless the context requires otherwise, "Ionis," "Company," "we," "our" and "us" all refer to Ionis Pharmaceuticals and its subsidiaries. Ionis Pharmaceuticals ® is a trademark of Ionis Pharmaceuticals, Inc. SPINRAZA ® and QALSODY ® are registered trademarks of Biogen. WAINUA™ is a registered trademark of the AstraZeneca group of companies.
Yahoo
02-06-2025
- Business
- Yahoo
Angelman Syndrome Market to Witness Significant Growth Through 2034, Driven by Novel Therapeutic Advancements
According to DelveInsight's estimates, the Angelman syndrome market size in the 7MM is expected to show positive growth during the forecast period (2025–2034), primarily driven by the increasing prevalence of Angelman syndrome, growing awareness and diagnosis, and new product launches. LAS VEGAS, June 2, 2025 /PRNewswire/ -- Angelman syndrome is a rare neurogenetic disorder affecting approximately 1 in 15,000 live births or 500,000 people globally. It results from the loss of function of the UBE3A gene located on the 15th chromosome, specifically the copy inherited from the mother. This loss is typically caused by a deletion or mutation of the UBE3A gene, leading to a deficiency of functional UBE3A protein in the brain. The condition is typically identified by developmental delays that become apparent between 6 and 12 months of age. Both males and females are equally affected, with the Angelman syndrome prevalence estimated to be about 1 in 12,000 to 20,000 people in the general population. In the US, the Angelman syndrome epidemiology is characterized by a diverse landscape. While rare, the Angelman syndrome prevalence is expected to rise due to improvements in diagnostic techniques, expanded availability of genetic testing, and greater awareness among healthcare professionals and the general public. This condition presents with developmental delays, intellectual disabilities, significant speech impairments, and distinct behavioral traits. As Angelman syndrome treatment options improve, along with advancements in supportive services and increased life expectancy for those affected, the number of individuals diagnosed is anticipated to grow. This evolving landscape highlights the importance of continued research, early detection, and comprehensive care to better support individuals with Angelman syndrome and their families. Learn more about the Angelman syndrome epidemiology @ Angelman Syndrome Cases Current treatment approaches for Angelman syndrome focus on a comprehensive, multidisciplinary strategy to manage symptoms and improve quality of life. Although there is no cure, treatments like antiepileptic drugs for seizure control and behavioral therapies are key in symptom management. Augmentative and alternative communication methods, alongside physical and occupational therapy, address developmental delays and enhance functional skills. Support services, including special education and support groups, provide vital assistance for individuals and families affected by Angelman syndrome. Current research on Angelman syndrome into experimental therapies, such as gene therapy and targeted drug treatments, offers promise for future breakthroughs in managing the condition. Angelman syndrome medications like RISPERDAL (risperidone) may help control hyperactive and socially disruptive behaviors, but should not be used long-term. Acid reflux (gastroesophageal reflux) is common in individuals with Angelman syndrome and can be managed by keeping the person upright during and after meals or using Angelman syndrome medications like Gaviscon and ranitidine. In severe, rare cases, a surgical procedure called fundoplication may be necessary. While current Angelman syndrome treatments focus on managing symptoms, there is a significant need for disease-modifying therapies that address the underlying genetic cause of Angelman syndrome, such as gene therapy or UBE3A reactivation strategies. Find out more about Angelman syndrome therapy @ Angelman Syndrome Medication Despite available antiepileptic Angelman syndrome medications, many individuals with Angelman syndrome experience treatment-resistant seizures, highlighting the need for more effective seizure management options. While augmentative and alternative communication (AAC) methods are helpful, there is a need for more advanced and accessible communication aids to improve communication abilities in non-verbal individuals. There is a need for long-term support services to address the evolving needs of individuals with Angelman syndrome as they transition into adulthood, including vocational training, independent living support, and access to specialized healthcare services. The pipeline of emerging treatments for Angelman syndrome shows promise, with mid-late stage products such as Ionis Pharmaceuticals' ION582, Ultragenyx Pharmaceuticals' GTX-102, Neuren Pharmaceuticals' NNZ-2591, MavriX Bio's MVX-220, and others demonstrating the potential to significantly impact the Angelman syndrome market and potentially revolutionize the treatment approach. Discover which Angelman syndrome therapy will grab major market share @ Angelman Syndrome Medical Research ION582 is an experimental antisense drug aimed at inhibiting the UBE3A transcript (UBE3A-ATS) and enhancing the production of UBE3A protein, potentially offering a treatment for Angelman syndrome. In July 2024, Ionis Pharmaceuticals reported positive outcomes from the HALOS Phase I/II study of ION582 in Angelman syndrome. Notable improvements were observed in communication, cognition, and motor function, with 97% of participants in the medium and high-dose groups showing overall symptom improvement based on SAS-CGI-C assessments. Ionis plans to start Phase III development in the first half of 2025. In May 2024, Ionis revealed positive topline results from the HALOS Phase I/IIa open-label study of ION582 in Angelman syndrome and announced that it would independently advance ION582 as part of its portfolio of potentially transformative treatments for serious neurological conditions. The company also plans to consult with regulatory authorities on the design of a pivotal program. Biogen chose not to exercise its option to license ION582. In 2022, the US FDA and EMA granted Orphan Drug Designation to ION582, and the FDA also awarded Fast Track and Rare Pediatric Designation. The drug is currently in Phase II trials and progressing toward Phase III. GTX-102 is an experimental antisense oligonucleotide delivered via intrathecal administration, targeting and inhibiting the expression of UBE3A-AS. Preclinical studies suggest that GTX-102 reduces UBE3A-AS levels and reactivates the paternal UBE3A allele in CNS neurons. GTX-102 has received Orphan Drug Designation, Rare Pediatric Disease Designation, and Fast Track Designation from the FDA, as well as Orphan Designation and PRIME designation from the EMA. In July 2024, Ultragenyx Pharmaceuticals presented new data and regulatory updates on GTX-102 at the ASF Conference, reviewing Phase I/II results and outlining plans to begin Phase III trials by the end of the year. In August 2019, GeneTx and Ultragenyx formed a partnership to develop GTX-102, with Ultragenyx acquiring exclusive rights to GeneTx in July 2022 for an initial payment of USD 75 million, plus future milestone and royalty payments. In April 2024, Ultragenyx announced positive interim Phase I/II data in Angelman syndrome patients treated with GTX-102. The drug is currently in Phase III trials. NNZ-2591 is an enhanced synthetic version of a naturally occurring brain peptide related to IGF-1, a growth factor stimulated by growth hormone. The drug is being developed to treat Angelman syndrome by restoring the natural balance of brain function. Neuren has received Orphan Drug Designation for NNZ-2591 from both the US FDA and EMA. The company has recently completed a Phase II clinical trial for Angelman syndrome. In August 2024, Neuren released positive top-line results from its Phase II trial, showing that the drug was safe and well-tolerated, with no serious adverse events. Furthermore, significant improvements were observed in both clinician and caregiver global efficacy measures tailored to the disease. MVX-220 is an experimental gene therapy based on the hu68AAV vector, developed to deliver the human UBE3A gene directly to brain neurons through a single intra-cisterna magna (ICM) injection. In preclinical studies, it has demonstrated the ability to restore UBE3A protein levels and alleviate symptoms in mouse models of Angelman syndrome. The therapy will be assessed in the Phase I/II clinical trial known as ASCEND-AS (AAV-mediated expression in neurons for Angelman syndrome). In May 2025, MavriX Bio announced that the FDA approved its Investigational New Drug (IND) application for MVX-220. The company plans to begin the first-in-human (FIH) ASCEND-AS clinical trial in the second half of 2025. To know about what is the current status of research on Angelman syndrome, visit @ Angelman Syndrome Cure Research The anticipated launch of these emerging therapies for Angelman syndrome are poised to transform the market landscape in the coming years. As these cutting-edge therapies continue to mature and gain regulatory approval, they are expected to reshape the Angelman syndrome market landscape, offering new standards of care and unlocking opportunities for medical innovation and economic growth. DelveInsight estimates that the market size for Angelman syndrome is expected to grow at a significant CAGR by 2034. This growth is mainly attributed to the increasing prevalence of Angelman syndrome, growing awareness and diagnoses, and the new product launches. DelveInsight's latest published market report, titled as Angelman Syndrome Market Insight, Epidemiology, and Market Forecast – 2034, will help you to discover which market leader is going to capture the largest market share. The report provides comprehensive insights into the Angelman syndrome country-specific treatment guidelines, patient pool analysis, and epidemiology forecast to help understand the key opportunities and assess the market's underlying potential. The Angelman syndrome market report proffers epidemiological analysis for the study period 2020–2034 in the 7MM segmented into: Total Prevalence of Angelman Syndrome Total Diagnosed Prevalence of Angelman Syndrome Angelman Syndrome Cases Associated with Clinical Manifestations Treated Cases of Angelman Syndrome The report provides an edge while developing business strategies by understanding trends shaping and driving the 7MM Angelman syndrome market. Highlights include: 10-year Forecast 7MM Analysis Epidemiology-based Market Forecasting Historical and Forecasted Market Analysis upto 2034 Emerging Drug Market Uptake Peak Sales Analysis Key Cross Competition Analysis Industry Expert's Opinion Access and Reimbursement Download this Angelman syndrome market report to assess the epidemiology forecasts, understand the patient journeys, know KOLs' opinions about the upcoming treatment paradigms, and determine the factors contributing to the shift in the Angelman syndrome market. Also, stay abreast of the mitigating factors to improve your market position in the Angelman syndrome therapeutic space. Related Reports Angelman Syndrome Epidemiology Forecast Angelman Syndrome Epidemiology Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted Angelman syndrome epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. Angelman Syndrome Pipeline Angelman Syndrome Pipeline Insight – 2025 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Angelman syndrome companies, including Neuren Pharmaceuticals, Ultragenyx Pharmaceutical, Ionis Pharmaceuticals, Roche, GEXVal, PTC Therapeutics, Taysha Gene Therapies, Ovid Therapeutics, among others. Rett Syndrome Market Rett Syndrome Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key Rett syndrome companies, including Biomed Industries, NEUROGENE, Taysha Gene Therapies, Anavex Lifesciences, among others. Rett Syndrome Pipeline Rett Syndrome Pipeline Insight – 2025 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Rett syndrome companies, including Anavex Life Sciences Corp, Neurogene, Taysha GTx, among others. About DelveInsight DelveInsight is a leading Business Consultant and Market Research firm focused exclusively on life sciences. It supports pharma companies by providing comprehensive end-to-end solutions to improve their performance. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve. Contact UsShruti Thakur info@ +14699457679 Logo: View original content: SOURCE DelveInsight Business Research, LLP 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
Yahoo
02-06-2025
- Business
- Yahoo
Angelman Syndrome Market to Witness Significant Growth Through 2034, Driven by Novel Therapeutic Advancements
According to DelveInsight's estimates, the Angelman syndrome market size in the 7MM is expected to show positive growth during the forecast period (2025–2034), primarily driven by the increasing prevalence of Angelman syndrome, growing awareness and diagnosis, and new product launches. LAS VEGAS, June 2, 2025 /PRNewswire/ -- Angelman syndrome is a rare neurogenetic disorder affecting approximately 1 in 15,000 live births or 500,000 people globally. It results from the loss of function of the UBE3A gene located on the 15th chromosome, specifically the copy inherited from the mother. This loss is typically caused by a deletion or mutation of the UBE3A gene, leading to a deficiency of functional UBE3A protein in the brain. The condition is typically identified by developmental delays that become apparent between 6 and 12 months of age. Both males and females are equally affected, with the Angelman syndrome prevalence estimated to be about 1 in 12,000 to 20,000 people in the general population. In the US, the Angelman syndrome epidemiology is characterized by a diverse landscape. While rare, the Angelman syndrome prevalence is expected to rise due to improvements in diagnostic techniques, expanded availability of genetic testing, and greater awareness among healthcare professionals and the general public. This condition presents with developmental delays, intellectual disabilities, significant speech impairments, and distinct behavioral traits. As Angelman syndrome treatment options improve, along with advancements in supportive services and increased life expectancy for those affected, the number of individuals diagnosed is anticipated to grow. This evolving landscape highlights the importance of continued research, early detection, and comprehensive care to better support individuals with Angelman syndrome and their families. Learn more about the Angelman syndrome epidemiology @ Angelman Syndrome Cases Current treatment approaches for Angelman syndrome focus on a comprehensive, multidisciplinary strategy to manage symptoms and improve quality of life. Although there is no cure, treatments like antiepileptic drugs for seizure control and behavioral therapies are key in symptom management. Augmentative and alternative communication methods, alongside physical and occupational therapy, address developmental delays and enhance functional skills. Support services, including special education and support groups, provide vital assistance for individuals and families affected by Angelman syndrome. Current research on Angelman syndrome into experimental therapies, such as gene therapy and targeted drug treatments, offers promise for future breakthroughs in managing the condition. Angelman syndrome medications like RISPERDAL (risperidone) may help control hyperactive and socially disruptive behaviors, but should not be used long-term. Acid reflux (gastroesophageal reflux) is common in individuals with Angelman syndrome and can be managed by keeping the person upright during and after meals or using Angelman syndrome medications like Gaviscon and ranitidine. In severe, rare cases, a surgical procedure called fundoplication may be necessary. While current Angelman syndrome treatments focus on managing symptoms, there is a significant need for disease-modifying therapies that address the underlying genetic cause of Angelman syndrome, such as gene therapy or UBE3A reactivation strategies. Find out more about Angelman syndrome therapy @ Angelman Syndrome Medication Despite available antiepileptic Angelman syndrome medications, many individuals with Angelman syndrome experience treatment-resistant seizures, highlighting the need for more effective seizure management options. While augmentative and alternative communication (AAC) methods are helpful, there is a need for more advanced and accessible communication aids to improve communication abilities in non-verbal individuals. There is a need for long-term support services to address the evolving needs of individuals with Angelman syndrome as they transition into adulthood, including vocational training, independent living support, and access to specialized healthcare services. The pipeline of emerging treatments for Angelman syndrome shows promise, with mid-late stage products such as Ionis Pharmaceuticals' ION582, Ultragenyx Pharmaceuticals' GTX-102, Neuren Pharmaceuticals' NNZ-2591, MavriX Bio's MVX-220, and others demonstrating the potential to significantly impact the Angelman syndrome market and potentially revolutionize the treatment approach. Discover which Angelman syndrome therapy will grab major market share @ Angelman Syndrome Medical Research ION582 is an experimental antisense drug aimed at inhibiting the UBE3A transcript (UBE3A-ATS) and enhancing the production of UBE3A protein, potentially offering a treatment for Angelman syndrome. In July 2024, Ionis Pharmaceuticals reported positive outcomes from the HALOS Phase I/II study of ION582 in Angelman syndrome. Notable improvements were observed in communication, cognition, and motor function, with 97% of participants in the medium and high-dose groups showing overall symptom improvement based on SAS-CGI-C assessments. Ionis plans to start Phase III development in the first half of 2025. In May 2024, Ionis revealed positive topline results from the HALOS Phase I/IIa open-label study of ION582 in Angelman syndrome and announced that it would independently advance ION582 as part of its portfolio of potentially transformative treatments for serious neurological conditions. The company also plans to consult with regulatory authorities on the design of a pivotal program. Biogen chose not to exercise its option to license ION582. In 2022, the US FDA and EMA granted Orphan Drug Designation to ION582, and the FDA also awarded Fast Track and Rare Pediatric Designation. The drug is currently in Phase II trials and progressing toward Phase III. GTX-102 is an experimental antisense oligonucleotide delivered via intrathecal administration, targeting and inhibiting the expression of UBE3A-AS. Preclinical studies suggest that GTX-102 reduces UBE3A-AS levels and reactivates the paternal UBE3A allele in CNS neurons. GTX-102 has received Orphan Drug Designation, Rare Pediatric Disease Designation, and Fast Track Designation from the FDA, as well as Orphan Designation and PRIME designation from the EMA. In July 2024, Ultragenyx Pharmaceuticals presented new data and regulatory updates on GTX-102 at the ASF Conference, reviewing Phase I/II results and outlining plans to begin Phase III trials by the end of the year. In August 2019, GeneTx and Ultragenyx formed a partnership to develop GTX-102, with Ultragenyx acquiring exclusive rights to GeneTx in July 2022 for an initial payment of USD 75 million, plus future milestone and royalty payments. In April 2024, Ultragenyx announced positive interim Phase I/II data in Angelman syndrome patients treated with GTX-102. The drug is currently in Phase III trials. NNZ-2591 is an enhanced synthetic version of a naturally occurring brain peptide related to IGF-1, a growth factor stimulated by growth hormone. The drug is being developed to treat Angelman syndrome by restoring the natural balance of brain function. Neuren has received Orphan Drug Designation for NNZ-2591 from both the US FDA and EMA. The company has recently completed a Phase II clinical trial for Angelman syndrome. In August 2024, Neuren released positive top-line results from its Phase II trial, showing that the drug was safe and well-tolerated, with no serious adverse events. Furthermore, significant improvements were observed in both clinician and caregiver global efficacy measures tailored to the disease. MVX-220 is an experimental gene therapy based on the hu68AAV vector, developed to deliver the human UBE3A gene directly to brain neurons through a single intra-cisterna magna (ICM) injection. In preclinical studies, it has demonstrated the ability to restore UBE3A protein levels and alleviate symptoms in mouse models of Angelman syndrome. The therapy will be assessed in the Phase I/II clinical trial known as ASCEND-AS (AAV-mediated expression in neurons for Angelman syndrome). In May 2025, MavriX Bio announced that the FDA approved its Investigational New Drug (IND) application for MVX-220. The company plans to begin the first-in-human (FIH) ASCEND-AS clinical trial in the second half of 2025. To know about what is the current status of research on Angelman syndrome, visit @ Angelman Syndrome Cure Research The anticipated launch of these emerging therapies for Angelman syndrome are poised to transform the market landscape in the coming years. As these cutting-edge therapies continue to mature and gain regulatory approval, they are expected to reshape the Angelman syndrome market landscape, offering new standards of care and unlocking opportunities for medical innovation and economic growth. DelveInsight estimates that the market size for Angelman syndrome is expected to grow at a significant CAGR by 2034. This growth is mainly attributed to the increasing prevalence of Angelman syndrome, growing awareness and diagnoses, and the new product launches. DelveInsight's latest published market report, titled as Angelman Syndrome Market Insight, Epidemiology, and Market Forecast – 2034, will help you to discover which market leader is going to capture the largest market share. The report provides comprehensive insights into the Angelman syndrome country-specific treatment guidelines, patient pool analysis, and epidemiology forecast to help understand the key opportunities and assess the market's underlying potential. The Angelman syndrome market report proffers epidemiological analysis for the study period 2020–2034 in the 7MM segmented into: Total Prevalence of Angelman Syndrome Total Diagnosed Prevalence of Angelman Syndrome Angelman Syndrome Cases Associated with Clinical Manifestations Treated Cases of Angelman Syndrome The report provides an edge while developing business strategies by understanding trends shaping and driving the 7MM Angelman syndrome market. Highlights include: 10-year Forecast 7MM Analysis Epidemiology-based Market Forecasting Historical and Forecasted Market Analysis upto 2034 Emerging Drug Market Uptake Peak Sales Analysis Key Cross Competition Analysis Industry Expert's Opinion Access and Reimbursement Download this Angelman syndrome market report to assess the epidemiology forecasts, understand the patient journeys, know KOLs' opinions about the upcoming treatment paradigms, and determine the factors contributing to the shift in the Angelman syndrome market. Also, stay abreast of the mitigating factors to improve your market position in the Angelman syndrome therapeutic space. Related Reports Angelman Syndrome Epidemiology Forecast Angelman Syndrome Epidemiology Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted Angelman syndrome epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. Angelman Syndrome Pipeline Angelman Syndrome Pipeline Insight – 2025 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Angelman syndrome companies, including Neuren Pharmaceuticals, Ultragenyx Pharmaceutical, Ionis Pharmaceuticals, Roche, GEXVal, PTC Therapeutics, Taysha Gene Therapies, Ovid Therapeutics, among others. Rett Syndrome Market Rett Syndrome Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key Rett syndrome companies, including Biomed Industries, NEUROGENE, Taysha Gene Therapies, Anavex Lifesciences, among others. Rett Syndrome Pipeline Rett Syndrome Pipeline Insight – 2025 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Rett syndrome companies, including Anavex Life Sciences Corp, Neurogene, Taysha GTx, among others. About DelveInsight DelveInsight is a leading Business Consultant and Market Research firm focused exclusively on life sciences. It supports pharma companies by providing comprehensive end-to-end solutions to improve their performance. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve. Contact UsShruti Thakur info@ +14699457679 Logo: View original content: SOURCE DelveInsight Business Research, LLP
