Latest news with #PKU
India Today
28-07-2025
- Health
- India Today
US FDA approves new oral drug for rare genetic disorder phenylketonuria
Food and Drug Administration headquarters in White Oak, Maryland, US (Image source: Reuters) Sephience treats phenylketonuria by enhancing enzyme phenylalanine hydroxylase PKU affects 1 in 15,000 US births and risks brain damage if untreated Sephience reduces blood phenylalanine by 63%, easing dietary restrictions The US Food and Drug Administration has approved PTC Therapeutics' oral drug to treat a rare inherited metabolic disorder that prevents the body from properly breaking down certain amino acids, the company said on Monday. The approval allows PTC to expand its revenue base as its top-selling Duchenne muscular dystrophy therapies, Translarna and Emflaza, face revenue declines due to regulatory scrutiny and loss of patent protection. The drug, branded as Sephience, is an oral therapy for both children and adults with phenylketonuria (PKU), a genetic condition caused by a change in the gene that helps create the enzyme responsible for breaking down phenylalanine an amino acid found in most protein-containing foods. All newborn babies in the United States are screened for phenylketonuria shortly after birth to catch the condition early and prevent serious brain damage. Sephience works by boosting the activity and stability of the enzyme phenylalanine hydroxylase (PAH), helping patients better manage the disorder. Without treatment, phenylalanine can build up to toxic levels, leading to irreversible brain damage, intellectual disability and other neurological problems. The overall incidence of PKU in the US is about 1 in 15,000 live births, according to the National Institutes of Health. Treatment options for PKU include a lifelong low-phenylalanine diet, special medical formulas and drugs such as BioMarin Pharmaceutical's BMRN.O Kuvan and Palynziq, which are approved for patients who respond to them. Jefferies analyst Kelly Shi expects peak annual sales of $741 million from Sephience by 2030. PTC's application was based on a late-stage trial in which the drug significantly reduced blood phenylalanine levels by an average of 63%, with most patients reaching guideline-recommended levels and some able to ease their strict diets while maintaining control. Sephience was approved in Europe last month. The drug is under review in several other countries, including Japan and Brazil. The US Food and Drug Administration has approved PTC Therapeutics' oral drug to treat a rare inherited metabolic disorder that prevents the body from properly breaking down certain amino acids, the company said on Monday. The approval allows PTC to expand its revenue base as its top-selling Duchenne muscular dystrophy therapies, Translarna and Emflaza, face revenue declines due to regulatory scrutiny and loss of patent protection. The drug, branded as Sephience, is an oral therapy for both children and adults with phenylketonuria (PKU), a genetic condition caused by a change in the gene that helps create the enzyme responsible for breaking down phenylalanine an amino acid found in most protein-containing foods. All newborn babies in the United States are screened for phenylketonuria shortly after birth to catch the condition early and prevent serious brain damage. Sephience works by boosting the activity and stability of the enzyme phenylalanine hydroxylase (PAH), helping patients better manage the disorder. Without treatment, phenylalanine can build up to toxic levels, leading to irreversible brain damage, intellectual disability and other neurological problems. The overall incidence of PKU in the US is about 1 in 15,000 live births, according to the National Institutes of Health. Treatment options for PKU include a lifelong low-phenylalanine diet, special medical formulas and drugs such as BioMarin Pharmaceutical's BMRN.O Kuvan and Palynziq, which are approved for patients who respond to them. Jefferies analyst Kelly Shi expects peak annual sales of $741 million from Sephience by 2030. PTC's application was based on a late-stage trial in which the drug significantly reduced blood phenylalanine levels by an average of 63%, with most patients reaching guideline-recommended levels and some able to ease their strict diets while maintaining control. Sephience was approved in Europe last month. The drug is under review in several other countries, including Japan and Brazil. Join our WhatsApp Channel
The Star
24-06-2025
- Politics
- The Star
Belarus-China youth forum kicks off in Minsk
MINSK, June 24 (Xinhua) -- A youth forum organized by Belarusian and Chinese universities kicked off Tuesday at the National Children's Technopark in Minsk. The forum is organized by the Belarusian State University (BSU) and the Peking University (PKU) as part of the inter-university celebration "Days of Friendship and Unity of BSU and PKU." Around 200 students from 36 Belarusian and 11 Chinese universities are participating in the forum, including talented students, graduate students, postgraduates, young scientists and student self-governance organisations of Belarus and China. Education is one of the most important areas of cooperation between China and Belarus, Chinese ambassador to Belarus Zhang Wenchuan told the media during the forum. This large-scale event will help strengthen partnership, bring Belarus-China interaction in youth policy to a new level and create a platform for intercultural exchanges, the BSU press service said.
Yahoo
24-06-2025
- Business
- Yahoo
Cambrooke Celebrates 25 Years of Innovation and a Bold Mission
AYER, Mass., June 24, 2025 /PRNewswire/ -- Ajinomoto Cambrooke, Inc., a global leader in medical nutrition, proudly celebrates its 25th anniversary with an expanded mission and refreshed brand identity. The mission—living without limits—is embodied by a new logo featuring a warm "hug" symbol, representing Cambrooke's role as a compassionate partner for individuals requiring therapeutic nutrition. In 2000, Lynn and David Paolella unwittingly launched Cambrooke in their family kitchen as a means to improve the lives of their children who had been diagnosed with phenylketonuria (PKU), a metabolic disorder requiring strict dietary management. The couple began experimenting with recipes to make their children's nutrition both palatable and effective. In 2017, Ajinomoto acquired Cambrooke, increasing the company's ability to deliver science-based nutritional solutions to patients around the world. Twenty-five years after Paolella's began developing recipes at home, the company has grown into a global innovator, serving customers worldwide and improving life for those living with PKU and beyond. Reflecting on the past quarter-century, co-founder Lynn Paolella said, "When David and I started Cambrooke, we wanted our children to live a life where their condition didn't define them. It was about removing the barriers that stood in their way. Over the past 25 years, we have seen that vision grow beyond our family to touch countless lives in every corner of the globe. Every product and every innovation has led to this moment. I am proud of everything we have created, particularly a 25-year legacy of care, resilience and possibility." Cambrooke President Rick Jentis added, "For 25 years, we have been here to help people live with freedom, confidence and joy, despite their dietary challenges. Our newly articulated mission, living without limits, captures the heart of who we've always been. And, it tells our team they are free to innovate without boundaries, pushing the limits of what's possible in medical nutrition. For those who rely on us, our mission is a reminder that Cambrooke is not just about what we make; it's about what we make possible for our customers." Cambrooke's first commercial offering was Homestyle Bread, a freshly baked product that replaced the previously canned bread. Partnering with the University of Wisconsin—Madison, the company pioneered the first Glycomacropeptide-based (GMP) formula, a development that transformed the field and established GMP as a new formula category. This breakthrough led to Glytactin BetterMilk™, a protein formula for PKU, and expanded Cambrooke's portfolio to support other inborn errors of metabolism (IEM), such as Tyrosinemia and Homocystinuria. The company later ventured beyond IEM into intractable epilepsy, launching KetoVie™, an advanced liquid ketogenic medical food and the only nutritionally complete plant-based protein ketogenic formula. Developments in the allergy and gastrointestinal disorder market followed with Essential Care Jr.™, the first and only amino acid-based formula free of corn syrup solids. Today, Cambrooke works with physicians and researchers from around the world to develop and commercialize products that focus on inborn errors of metabolism, intractable epilepsy, gastrointestinal issues and the reduction of malnutrition and weight loss in chronic diseases. Cambrooke invites its community—patients, caregivers, dietitians and partners—to join in celebrating 25 years of impact and to embrace a future without limits. Ajinomoto Cambrooke, Inc. (formerly Cambrooke Therapeutics) is a global leader in medical nutrition, specializing in science-based, therapeutic solutions for metabolic disorders such as PKU, Tyrosinemia, and other conditions that require specialized nutritional care. More information is available at Contact: Elayna RuckerPhone: 301.980.6594Email: 396901@ View original content to download multimedia: SOURCE Ajinomoto Cambrooke, Inc. 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
23-06-2025
- Health
- Yahoo
Sephience™ (sepiapterin) Granted Marketing Authorization by the European Commission for the Treatment of Children and Adults Living with Phenylketonuria (PKU)
– Broad label inclusive of all ages and disease severities – – Launch to be initiated in Germany – WARREN, N.J., June 23, 2025 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that Sephience™ (sepiapterin) was granted marketing authorization by the European Commission for the treatment of children and adults living with phenylketonuria (PKU). The authorization includes a broad label inclusive of all ages and disease severities. "The European approval of Sephience is a great step in our efforts to bring this safe and highly effective therapy to children and adults affected by PKU worldwide," said Matthew B. Klein, M.D., Chief Executive Officer of PTC Therapeutics. "The broad label supports that potential for Sephience to address all key PKU patient segments and become the new standard of care." The European approval is based on the highly statistically significant results from the Phase 3 APHENITY trial as well as evidence of durable treatment effect and the ability of study participants to liberalize their diet in the APHENITY long-term extension study. The marketing authorization is applicable to all 27 European Union member states as well as Iceland, Norway and Liechtenstein. The Sephience European launch will be initiated in Germany in the first half of July. A New Drug Application (NDA) for sepiapterin remains on schedule for its FDA target action date of July 29, 2025. Review of approval applications is ongoing in several other countries including Japan and Brazil. About Sephience™ (sepiapterin)Sephience™ (sepiapterin) is indicated for the treatment of hyperphenylalaninaemia (HPA) in adult and pediatric patients with phenylketonuria (PKU). Sephience is a natural precursor of the enzymatic co-factor BH4, a critical co-factor for phenylalanine hydroxylase (PAH). Sephience acts as a dual pharmacological chaperone (sepiapterin and BH4 each with its own binding affinity to variant PAH), including PAH variants commonly found in PKU and known to be insensitive to BH4, to improve the activity of the defective PAH enzyme, achieving a high concentration of BH4 intracellularly. By enhancing the conformational stability of misfolded PAH enzyme and increasing the intracellular concentrations of BH4, Sephience is able to effectively reduce blood Phe levels. Sephience (sepiapterin) is approved in the European Economic Area. Sepiapterin is an investigational new drug in the United States. About PhenylketonuriaPhenylketonuria (PKU) is a rare, inherited metabolic disease, which affects the brain. It is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine (Phe). If left untreated or poorly managed, Phe — an essential amino acid found in all proteins and most foods — can build up to harmful levels in the body. This causes severe and irreversible disabilities, such as permanent intellectual disability, seizures, delayed development, memory loss, and behavioral and emotional problems. Newborns with PKU initially do not have any symptoms, but symptoms are usually progressive, and damage caused by toxic levels of Phe in the first few years of life is irreversible. Diagnosis of PKU usually takes place during newborn screening programs. There are an estimated 58,000 people living with PKU globally. About PTC Therapeutics, Inc. PTC is a global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to children and adults living with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. The company's strategy is to leverage its strong scientific expertise and global commercial infrastructure to maximize value for its patients and other stakeholders. To learn more about PTC, please visit and follow on Facebook, X, and LinkedIn. For More Information: Investors: Ellen Cavaleri +1 (615) 618-6228 ecavaleri@ Media: Jeanine Clemente +1 (908) 912-9406 jclemente@ Forward-Looking Statement This press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. All statements contained in this release, other than statements of historic fact, are forward-looking statements, including statements regarding: the future expectations, plans and prospects for PTC, including with respect to the expected timing of clinical trials and studies, availability of data, regulatory submissions and responses, commercialization and other matters with respect to its products and product candidates; expectations with respect to Sephience, including timing of commercialization and of potential regulatory decisions; PTC's strategy, future operations, future financial position, future revenues, projected costs; and the objectives of management. Other forward-looking statements may be identified by the words, "guidance", "plan," "anticipate," "believe," "estimate," "expect," "intend," "may," "target," "potential," "will," "would," "could," "should," "continue," and similar expressions. PTC's actual results, performance or achievements could differ materially from those expressed or implied by forward-looking statements it makes as a result of a variety of risks and uncertainties, including those related to: the outcome of pricing, coverage and reimbursement negotiations with third party payors for PTC's products or product candidates that PTC commercializes or may commercialize in the future; expectations with respect to Sephience, including any regulatory submissions and potential approvals, commercialization and the potential achievement of regulatory and sales milestones and contingent payments that PTC may be obligated to make; significant business effects, including the effects of industry, market, economic, political or regulatory conditions; changes in tax and other laws, regulations, rates and policies; the eligible patient base and commercial potential of PTC's products and product candidates; PTC's scientific approach and general development progress; and the factors discussed in the "Risk Factors" section of PTC's most recent Annual Report on Form 10-K, as well as any updates to these risk factors filed from time to time in PTC's other filings with the SEC. You are urged to carefully consider all such factors. As with any pharmaceutical under development, there are significant risks in the development, regulatory approval, and commercialization of new products. There are no guarantees that any product will receive or maintain regulatory approval in any territory, or prove to be commercially successful, including Sephience. The forward-looking statements contained herein represent PTC's views only as of the date of this press release and PTC does not undertake or plan to update or revise any such forward-looking statements to reflect actual results or changes in plans, prospects, assumptions, estimates or projections, or other circumstances occurring after the date of this press release except as required by law. View original content: SOURCE PTC Therapeutics, Inc. Effettua l'accesso per consultare il tuo portafoglio
Medscape
19-06-2025
- Health
- Medscape
Fast Five Quiz: Infant Phenylketonuria
A rare disorder, phenylketonuria (PKU) affects how patients process phenylalanine, often leading to an accumulation of this amino acid in the blood and throughout the body; this can result in intellectual disability, epilepsy, eczema, behavioral issues, and parkinsonian features. In infants, PKU usually appears asymptomatic at birth. As a result, clinicians and family must be diligent about screening and diagnosis to prevent long-term complications, with effective guidelines and dietary recommendations available as part of management. What do you know about PKU in infants? Check your knowledge with this quiz. Newborn screening for PKU (via blood collection from the heel) is typically performed following birth. For newborns who test positive for elevated phenylalanine, an analysis of blood and/or urine pterin metabolism is typically recommended; quantitative blood amino acid testing is also recommended, including phenylalanine-to-tyrosine ratio and complete amino acid profile. Phenylalanine hydroxylase (PAH) genotype is then recommended to improve therapy planning and to confirm diagnosis. If no PAH variants are detected, DNAJC12 deficiency should be considered and ruled out with molecular testing. Liver function tests and cranial ultrasound are usually not implemented during this stage and are usually performed when the infant is older, if necessary. Learn more about PKU screening. BH4 and DNAJC12 deficiencies, as well as liver disease, are specifically recommended to be excluded in the differential diagnosis for PKU after a positive newborn screening; these cases typically will require different treatment strategies. As such, confirmatory genetic testing is recommended for patients with PKU. This can improve patient care and provide further insight into the nuances of this disease. Learn more about PKU differential diagnosis. Treatment for PKU should be initiated upon diagnosis and monitoring should be performed weekly through the first year of life. Additional monitoring, including clinical nutritional assessment, bone mineral density, and others, are recommended at various intervals and frequencies throughout life. These recommendations can be found in a table here. Learn more about PKU monitoring. The PKU dietary handbook generally recommends a phenylalanine target range of 120-360 μmol/L for infants and children up to the age of 12 years as well as for patients planning conception. This is consistent with other recommendations and recent data as well. Studies have shown that phenylalanine levels > 360 μmol/L in the first month of life are negatively correlated with IQ, and higher IQ scores are seen when patents are treated within 3 weeks compared with 4, 5, and 6-10 weeks of age. Certain guidelines classify patients into three groups: not requiring treatment (phenylalanine < 360 μmol/L), cofactor-responsive requiring treatment, and cofactor unresponsive requiring treatment. Learn more about complications in PKU. Breastfeeding, at any time, is generally safe in infants with PKU and can be supplemented with phenylalanine-free formula. Solely formula (that is phenylalanine-free as well) feeding is also generally safe, but limited phenylalanine (to meet the requirement for protein synthesis) must then be provided through standard infant formula. Further, researchers claim, 'there is no evidence to show that any one method leads to better blood [phenylalanine] control or has advantage with infant growth.' Certain PKU guidelines cite data indicating the safety of breastfeeding infants in both mothers with and without PKU, while also noting the importance of supplementation with medical foods and adequate monitoring of phenylalanine levels. Total parenteral nutrition (TPN) is generally not recommended for infants during the first 6 months of life. If required, specialized TPN with reduced amounts of phenylalanine can be obtained. Learn more about breastfeeding in PKU.
