Latest news with #Angelman
Yahoo
6 days ago
- 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
6 days ago
- 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
Scottish Sun
24-05-2025
- Entertainment
- Scottish Sun
Fans shocked as they spot Hollywood A-lister texting topless outside a coffee shop – would you have spotted him?
Click to share on X/Twitter (Opens in new window) Click to share on Facebook (Opens in new window) FILM fans were left craving iced coffee to cool off after seeing footage of a shirtless Hollywood A-lister texting outside a shop in LA. The film hunk might be 48 now, but he's still in fantastic shape and only getting better with age. 5 This Hollywood hunk turned heads as he went topless in LA Credit: Tiktok Wearing a backwards baseball cap and black running shorts, the actor smiled as he text on his phone by the roadside. One TikTok user wrote: "Oh he looks good." Another said: "May this type of celebrity sighting find me." A third added: "He's been FINE his whole life." READ MORE ON COLIN FARRELL A FATHER'S LOVE Inside Colin Farrell's family life as he puts son in long term care It is of course Irish superstar Colin Farrell. The Penguin lead is considered one of the industry's good guys and a number of social media users shared anecdotes of their interactions with him. Some attended yoga classes at LA studio Modo, while others credited his work ethic and shared how he was happy to hang out with regular folk when not shooting movies. One said: "We were in the same yoga class for a long time together. He's awesome." Another posted: "We were in the same yoga class for a long time together. He's awesome." The heartthrob recently shared some deeply personal news that showed a different side to his character. Colin Farrell opens up on sons rare condition He revealed the heartbreaking reason he's planning on putting his disabled son James, 21, into a long-term care facility. James has Angelman syndrome, a rare genetic disorder that causes intellectual and developmental delay. According to the Mayo Clinic, it "causes delayed development, problems with speech and balance, mental disability, and, sometimes, seizures". James, whose mum is Kim Bordenave, was diagnosed at four years old. Speaking to Candis Magazine for their May 2025 issue, Colin revealed why he and Kim made the decision. "It's tricky, some parents will say: 'I want to take care of my child myself.' "And I respect that," he told the outlet. "But my horror would be... What if I have a heart attack tomorrow, and, God forbid, James' mother, Kim, has a car crash and she's taken too – and then James is on his own?" Symptoms of Angelman syndrme Accoding to Mayo Clinic, symptoms of Angelman syndrome include: Developmental delays, including no crawling or babbling at 6 to 12 months. Mental disability, also called intellectual disability. No speech or little speech. Trouble walking, moving or balancing. Smiling and laughing often and seeming happy. Being easy to excite. Trouble sucking or feeding. Trouble going to sleep and staying asleep. The health provider also states that people who have Angelman syndrome may also have: Seizures, often beginning between 2 and 3 years of age. Stiff or jerky movements. Small head size by age 2. Tongue thrusting. Hair, skin and eyes that are light in color. Odd behaviors, such as hand flapping and arms uplifted while walking. Crossed eyes, also caused strabismus. Curved spine, also called scoliosis. COLIN'S PLEA Last summer, Colin opened up candidly about his son's condition. Speaking to People Magazine, Colin said how he wanted the world to treat his son with kindness and respect. "I want the world to be kind to James. "I want the world to treat him with kindness and respect," he said. Colin went on to say: "Once your child turns 21, they're kind of on their own. "All the safeguards that are put in place, special ed classes, that all goes away, so you're left with a young adult who should be an integrated part of our modern society and more often than not is left behind." Around the same time of his interview with the outlet, Colin announced the launch of the Colin Farrell Foundation. The foundation is "committed to transforming the lives of individuals and families living with intellectual disability through education, awareness, advocacy, and innovative programs". 5 Colin Farrell had fans swooning as he text in the street Credit: Tiktok 5 Colin launched a foundation to help people with intellectual difficulties Credit: Getty 5 Colin recently opened up about son James' Angelman syndrome Credit: Instagram
Yahoo
15-05-2025
- Business
- Yahoo
Arbor Biotechnologies to Present Data on CNS Programs and Platform Advances at the American Society of Gene and Cell Therapy (ASGCT) 28th Annual Meeting
– Presentations demonstrate progress in advancing portfolio of CNS gene editing programs in SOD1 ALS and first data presented on company's Angelman syndrome program – Data showcase specificity characterization of Arbor's proprietary type V nucleases to have 10-fold greater sensitivity in off-target detection – Identification and characterization of first RT editor packageable in a single AAV CAMBRIDGE, Mass., May 15, 2025 (GLOBE NEWSWIRE) -- Arbor Biotechnologies, Inc., a biotechnology company discovering and developing the next generation of genetic medicines, today announced the presentation of four posters showcasing Arbor's commitment to CNS diseases of high unmet need and advances in proprietary gene editing technology at the American Society of Gene and Cell Therapy (ASGCT) 28th Annual Meeting, taking place May 13-17 in New Orleans, Louisiana. CNS Program Presentations Presented data demonstrated preclinical proof-of-concept for Arbor's proprietary type V gene editing platform, which enables delivery of the nuclease and guide construct in a single AAV capsid, in amyotrophic lateral sclerosis (ALS) with superoxide dismutase 1 (SOD1) mutations. In vitro and in vivo data detailed the identification and characterization of nuclease and guide constructs targeting SOD1 that efficiently reduced SOD1 protein levels while maintaining low off-target liability. Assessment of top performing editing constructs in a fast-progressing preclinical mouse model of ALS prevented a decline in muscle function which is indicative of motor neuron preservation. Moreover, an ongoing survival study demonstrated an extension of survival by approximately 100 days compared to controls. Arbor's presentations at the meeting included the first public presentation of its differentiated gene editing approach to potentially enable long-term treatment of Angelman syndrome by reactivating the paternal copy of the UBE3A gene, which is normally silenced in Angelman patients. The gene editing approach was able to restore UBE3A protein levels in Angelman patient-derived neurons to or above levels found in neurotypical control neurons or greater. In a novel multi-electrode array assay, developed to evaluate neuron activity, Arbor demonstrated the ability to reverse the hyperexcitability and hypersynchrony phenotype demonstrated in Angelman syndrome neurons to levels observed in neurotypical control neurons. 'We are excited to share our progress in advancing our type V gene editing platform beyond the liver into two CNS diseases of high unmet medical need,' said John Murphy, Ph.D., Chief Scientific Officer at Arbor. 'These data support the continued development of these programs toward the clinic as novel therapeutic approaches with the potential to durably improve patient outcomes.' Arbor's Gene Editing Platform Presentations Building on an earlier oral presentation highlighting preclinical data for ABO-101 in PH1, a separate presentation further elaborated on the in-depth on- and off-target assessment of Arbor's proprietary engineered Cas12i2 type V nuclease. Data presented showed the consistency of Arbor's engineered Cas12i2 to generate 5-20 nucleotide deletions. The similarity between on- and off-target editing patterns enabled Arbor to develop and validate a robust statistical method for off-target analysis. The limit of detection of the verification workflow was shown to be 0.012%, which is 10-fold more sensitive than the industry standard for detection of off-target editing for Cas9-based programs. Arbor showcased this approach in the off-target analysis for ABO-101, with 80% on-target editing and no off-target edits detected above 0.1% in primary human hepatocytes (PHH) and human splenic endothelial cells (HSEC). An additional presentation detailed the first identification and characterization of novel small reverse transcriptase (RT) editors deliverable via a single adeno-associated virus (AAV) vector. Arbor demonstrated robust engineering of the small RT editors (sRTE) to substantially improve RT editing activity and broader targetability with the ability to make precise corrections in induced motor neurons. 'The advances in our platform technology support the sustainability of our gene editing discovery and development platform at Arbor,' said Devyn Smith, Ph.D., Chief Executive Officer at Arbor. 'The ability to increase the sensitivity of our off-target detection allows more rigorous evaluation of the specificity and safety profile of our nucleases prior to entering the clinic. In addition, our identification of, what is to our knowledge the first small RT editors capable of being delivered via single AAV, allows us to further expand potential therapeutic targets for future development.' Details for the poster presentations are as follows: Title: Abstract Number: 1100Session: Wednesday Poster ReceptionSession Date and Time: Wednesday, May 14, 2025, 5:30-7:00 PM CDTLocation: Poster Hall, Hall I2Presenter: Dan Brogan, PhD Title: Abstract Number: 1549Session: Thursday Poster ReceptionSession Date and Time: Thursday, May 15, 2025, 5:30-7:00 PM CDTLocation: Poster Hall, Hall I2Presenter: Adele Bubnys, PhD Title: Abstract Number: 1637Session: Thursday Poster ReceptionSession Date and Time: Thursday, May 15, 2025, 5:30-7:00 PM CDTLocation: Poster Hall, Hall I2Presenter: Ivan Kristanto Title: Abstract Number: 1923Session: Thursday Poster ReceptionSession Date and Time: Thursday, May 15, 2025, 5:30-7:00 PM CDTLocation: Poster Hall, Hall I2Presenter: Amrutha Pattamatta, PhD About ABO-101ABO-101 is a novel, investigational gene editing medicine designed to be a one-time liver-directed gene editing treatment that results in a permanent loss of function of the HAO1 gene in the liver to reduce PH1-associated oxalate production. ABO-101 is currently being evaluated for PH1 in the redePHine Phase 1/2 clinical study (NCT06839235). PH1 is a rare genetic disorder in which enzyme deficiencies in the liver lead to the overproduction and buildup of oxalate, resulting in kidney stones eventually leading to end stage kidney disease and systemic oxalosis. ABO-101 is designed to knock down HAO1 gene expression in the liver, thereby providing durable reduction in oxalate production. ABO-101 consists of a lipid nanoparticle (LNP), licensed from Acuitas Therapeutics, encapsulating messenger RNA expressing a novel Type V CRISPR Cas12i2 nuclease and an optimized guide RNA which specifically targets the human HAO1 gene. About Arbor Biotechnologies, Biotechnologies™, a clinical stage, next-generation gene editing company based in Cambridge, MA, is advancing a pipeline of novel gene editing therapeutics to address a wide range of genetic conditions – from the ultra-rare to the most common genetic diseases. The company's unique suite of optimized gene editors, which is capable of approaches ranging from gene knockout, excisions, reverse transcriptase editing, and large gene insertion, goes beyond the limitations of early editing technologies to unlock access to new gene targets and has fueled a robust pipeline of first-in-class assets focused on diseases of high unmet need. With Arbor's lead program, ABO-101 for the treatment of primary hyperoxaluria type 1, progressing into clinical trials, the company continues to focus its research and development efforts on genomic diseases of the liver and CNS for which there are no existing functional cures. For more information, please visit: Media Contact:Peg RusconiDeerfield Groupprusconi@
Business Wire
13-05-2025
- Business
- Business Wire
Encoded Therapeutics Presents Promising New Data for CNS Gene Therapy Programs at the ASGCT 28th Annual Meeting
SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Encoded Therapeutics Inc., a clinical-stage biotechnology company developing genetic medicines for severe central nervous system (CNS) disorders, today announced the results of preclinical studies that underscore the strength of the Company's vector engineering platform and demonstrate continued progress of programs for Angelman syndrome, Alzheimer's disease / tauopathies and chronic pain. Three poster presentations are being highlighted at the 28 th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT) in New Orleans, LA, May 13 – 17, 2025. "The data we will present at ASGCT underscore the power and versatility of Encoded's vector engineering platform to target a wide array of validated disease pathways with potential one-time treatments," said Stephanie Tagliatela, co-founder and Chief Scientific Officer at Encoded. "We look forward to sharing these promising results as we advance our maturing pipeline of CNS programs." Poster Presentation Details ETX201: An AAV9-based Vectorized miRNA Therapeutic Candidate for Angelman Syndrome. Poster # 547. Presenter, Sirika Pillay, PhD Date & Time: Tuesday, May 13, 6 – 7:30 PM CT Location: Poster Hall I2 Recent data further support the potential for a one-time vectorized miRNA therapy for Angelman syndrome. The current findings demonstrate potent, dose-dependent, and selective target engagement, with gene-specific knockdown of UBE3A-ATS and paternal UBE3A upregulation in a genome-wide transcriptomic analysis. ETX201 distributes widely throughout the brain in NHPs, with ETX201 miRNA transcript present in CSF and serum. In addition, ETX201 exhibits dose-dependent upregulation of paternal UBE3A across multiple disease-relevant brain regions, translating to an approximate 20 percent increase in total UBE3A RNA, as well as increased protein levels. Potent and Specific AAV9-miRNA Candidates Demonstrate Robust Reduction of Microtubule-associated Protein Tau (MAPT) in Non-Human Primates. Poster # 1440. Presenter, Veda Tatavarty, PhD Date & Time: Wednesday, May 14, 5:30 – 7 PM CT Location: Poster Hall I2 The first data from NHP studies of Encoded's vectorized miRNA cassettes show MAPT knockdown in key disease-relevant brain regions following AAV9-based delivery, including: up to 34 percent knockdown of bulk MAPT transcript in the cortex, 32 percent in the hippocampus, and up to 24 percent reduction in tau protein levels in the hippocampus. Consistent with these findings, our vectorized miRNA cassettes show high on-target specificity and processing fidelity and demonstrate target engagement in adult humanized tau (hTau) mice, including greater than 50 percent knockdown of MAPT transcript and human tau protein using an IV-delivered tool capsid. Together, these data demonstrate potent and selective knockdown of MAPT and highlight the potential to achieve enhanced target engagement by pairing Encoded's vectorized miRNA cassettes with novel capsids designed for superior biodistribution in the brain. Developing an AAV-based Gene Therapy for Chronic Pain Through Identification of Potent and Selective Artificial miRNA Candidates to Knockdown SCN9A. Poster # 1925. Presenter, Chao Tai, PhD Date & Time: Thursday, May 15, 5:30 – 7 PM CT Location: Poster Hall I2 New data in chronic pain include the first demonstration of preclinical efficacy for Encoded's SCN9A -targeted vectorized miRNA candidates in a rat pain model, showing a durable analgesic effect and up to 70 percent Scn9a knockdown in DRG tissue. These data on our SCN9A -targeting miRNA candidates confirm potent and dose-dependent knockdown observed in vitro, with transcriptome-wide selectivity and favorable miRNA processing characteristics. About Encoded Therapeutics Encoded Therapeutics is a clinical-stage genetic medicines company developing potentially one-time, disease-modifying therapies for severe CNS disorders. Our proprietary vector engineering technology combines novel regulatory elements and payloads with AAV vectors, unlocking innovative solutions for intractable CNS conditions. Our lead clinical-stage program, ETX101 for Dravet syndrome, targets the underlying cause of the disorder through selective upregulation of SCN1A for potentially long-lasting benefit. Encoded's second program, ETX201, is a development-stage vectorized miRNA-based gene therapy designed to restore expression of UBE3A in individuals with Angelman syndrome. In parallel, we are advancing potentially best-in-class programs for common CNS conditions, including chronic pain and Alzheimer's disease / tauopathies. Harnessing our proprietary technology platform and expertise, we can efficiently advance programs from discovery through clinical development. Encoded is committed to pioneering breakthrough treatments for CNS disorders. For more information, please visit
