Multi-centre, Open-label Trial to Assess the saFety, Pharmacodynamics, Efficacy and Pharmacokinetics of pegunigaLsidase Alfa in Patients From 2 Years to Less Than 18 Years of Age With Confirmed FabrY Disease

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.

Start Date01 Feb 2025

Sponsor / Collaborator

CHIESI Farmaceutici SpA

[+1]

NCT06663358

/ RecruitingNot Applicable

A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients

A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa (Elfabrio®) in routine clinical care.

Start Date06 Nov 2024

Sponsor / Collaborator

CHIESI Farmaceutici SpA

NCT06095713

/ RecruitingNot ApplicableIIT

German Observational Multicenter Study of Patients With Fabry Disease Under Enzyme Replacement Therapy With Pegunigalsidase-alfa

Pegunigalsidase-alfa may represent an advance in ERT for FD, based on its unique pharmacokinetics and apparent low immunogenicity. The objective of the study is to document long term data on treatment with pegunigalsidase-alfa under "real world" conditions. 60 patients with FD (therapy-naïve or pretreated with agalsidase-alfa or agalsidase-beta) will be recruited in 8 German Fabry centers. The treatment duration/patient will be 2 years. All patients will be followed-up by the above listed Fabry expert centers.

Start Date01 Oct 2023

Sponsor / Collaborator

Westfälische Wilhelms-Universität Münster

[+1]

100 Clinical Results associated with Pegunigalsidase alfa

100 Translational Medicine associated with Pegunigalsidase alfa

100 Patents (Medical) associated with Pegunigalsidase alfa

Literatures (Medical) associated with Pegunigalsidase alfa

01 Mar 2025·Advances in Therapy

Health State Utility Values in Fabry Disease: Insights from the Pegunigalsidase Alfa Clinical Trials

Article

Author: Koulinska, Irene ; Kunduri, Swati ; Dorling, Patricia ; Raad-Faherty, Angie ; Lan, Zhiyi ; Azimpour, Khashayar ; Poritz, Julia ; Tremblay, Gabriel

INTRODUCTIONFabry disease (FD) is a rare lysosomal storage disorder that is associated with pain and progressive damage to the renal, cardiac, and cerebrovascular systems. Enzyme replacement therapy (ERT) is one of the treatment options for FD and the most recently approved ERT agent, pegunigalsidase alfa, has shown clinical efficacy in three phase 3 clinical trials of adults with FD: BALANCE, BRIDGE, and BRIGHT. Recent published guidelines support the mapping of health utility state data to the EuroQol-5 Dimension-3 Level (EQ-5D-3L) index to align with the preferred methodology used by the National Institute for Health and Care Excellence (NICE). Therefore, the primary objective of this study was to estimate EQ-5D-3L values in clinical trials of pegunigalsidase alfa for FD for future cost-utility analyses.METHODSA mixed effects model was developed to predict values derived from EQ-5D-3L for the following health states used in cost-utility analyses: no Fabry clinical event (FCE)/no pain-related adverse event (AE), pain-related AE, cardiac FCE, cerebrovascular FCE, and renal FCE.RESULTSThe baseline EQ-5D-3L utility value had a statistically significant (p < 0.0001) impact on utility values, whereas study, age, sex, disease type, treatment arm, kidney function, and serious AE were not statistically significant. Health state utility values with 95% confidence intervals (CI) for the final model were as follows: no FCE/no pain-related AE, 0.8005 (0.7675, 0.8334); pain-related AE, 0.7737 (0.7262, 0.8211); cardiac FCE, 0.7189 (0.6274, 0.8103); cerebrovascular FCE, 0.7923 (0.6633, 0.9212); and renal FCE, 0.6881 (0.3887, 0.9874).CONCLUSIONSThe utility values generated by the present study are generally in line with EQ-5D values in the FD literature and can be used to inform both economic evaluations and our understanding of the impact that FD has on quality of life.TRIAL REGISTRATIONNCT03018730, NCT02795676, NCT03180840.

01 Feb 2025·Advances in Therapy

Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice

Review

Author: Pieruzzi, Federico ; Cianci, Vittoria ; Tuttolomondo, Antonino ; Biagini, Elena ; Pisani, Antonio ; Mignani, Renzo ; Pieroni, Maurizio

Fabry disease (FD) is a rare lysosomal storage disorder that is characterized by renal, neurological, and cardiovascular dysfunction. Four treatments are currently available for patients with FD; three enzyme replacement therapies (ERTs; agalsidase alfa, agalsidase beta, and pegunigalsidase alfa) and one pharmacological chaperone (migalastat). This review focuses on the evidence for the benefits of ERTs and migalastat, and provides an overview of their impact on disease manifestations and quality of life (QoL). Agalsidase beta is associated with renal, neurological, and cardiovascular benefits, and may prevent renal disease progression. Agalsidase alfa provides stabilizing effects across all main organ systems, although minor sex-specific differences exist in patients with more advanced baseline disease. The benefits of agalsidase alfa and agalsidase beta are similar but depend on the extent of baseline disease. Some data indicate that agalsidase beta may be preferable over the longer term. Both agalsidase alfa and agalsidase beta are associated with improved gastrointestinal and pain symptoms, as well as improved QoL. Patients with advanced end-organ damage tend not to respond as optimally to ERTs as those who initiate ERTs before irreversible organ fibrosis develops, highlighting the need for early treatment initiation. Migalastat, which is only approved for patients with amenable missense gene variants, generally stabilizes renal parameters and provides cardiovascular benefits. Migalastat also improves diarrhea and pain, and stabilizes QoL (although ERT may be more effective for pain management), but the neurological effects of migalastat have not been studied. Real-world data raise concerns about effective in vivo amenability of some genetic variants. Future studies with direct treatment comparisons in patients with FD are needed.

01 Jan 2025·Journal of Inherited Metabolic Disease

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Article

Author: Eyskens, François ; Hughes, Derralynn ; Longo, Nicola ; Waldek, Stephen ; Wilcox, William R. ; Chertkoff, Raul ; Goker‐Alpan, Ozlem ; Pisani, Antonio ; Alon, Sari ; Sakov, Anat ; Holida, Myrl ; Bernat, John A. ; Rocco, Rossana ; Deegan, Patrick ; Feldt‐Rasmussen, Ulla ; Almon, Einat Brill ; Wallace, Eric ; Tøndel, Camilla ; Warnock, David G. ; Linhart, Aleš

AbstractPegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 years, who switched to 2 mg/kg pegunigalsidase alfa every 4 weeks (E4W) for 52 weeks. Primary objective assessed safety, including number of treatment‐emergent adverse events (TEAEs). Thirty patients were enrolled (24 males); 23 previously received agalsidase beta. Pegunigalsidase alfa plasma concentrations remained above the lower limit of quantification throughout the 4‐week dosing interval. Thirty‐three of 182 TEAEs (in 9 patients) were considered treatment‐related; all were mild/moderate. No patients developed de novo anti‐drug antibodies (ADAs). In the efficacy analysis (n = 29), median (inter‐quartile range) eGFR change from baseline over 52 weeks was −1.9 (−5.9; 1.8) mL/min/1.73 m2 (n = 28; males [n = 22]: –2.4 [−5.2; 3.2]; females [n = 6]: −0.7 [−9.2; 2.0]). Overall, median eGFR slope was –1.9 (−8.3; 1.9) mL/min/1.73 m2/year (ADA‐negative [n = 20]: −1.2 [−6.4; 2.6]; ADA‐positive [n = 9]: −8.4 [−11.6; –1.0]). Lyso‐Gb3 concentrations were low and stable in females, with a slight increase in males (9/24 ADA‐positive). The BRIGHT study results suggest that 2 mg/kg pegunigalsidase alfa E4W is tolerated well in stable adult patients with Fabry disease. Due to the low number of patients in this study, more research is needed to demonstrate the effects of pegunigalsidase alfa given E4W. Further evidence, outside of this clinical trial, should be factored in for physicians to prolong the biweekly ERT intervals to E4W.Take‐home messageTreatment with 2 mg/kg pegunigalsidase alfa every 4 weeks could offer a new treatment option for patients with Fabry disease.

News (Medical) associated with Pegunigalsidase alfa

17 Mar 2025

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Protalix BioTherapeutics Reports Fiscal Year 2024 Financial and Business Results

Company to host conference call and webcast today at 8:30 a.m. EDT CARMIEL, Israel, March 17, 2025 /PRNewswire/ -- Protalix BioTherapeutics, Inc. (NYSE American: PLX), a biopharmaceutical company focused on the development, production and commercialization of recombinant therapeutic proteins produced by its proprietary ProCellEx® plant cell-based protein expression system, today reported financial results for the fiscal year ended December 31, 2024, and provided a business and clinical update. "2024 was a record year in revenues from selling goods for Protalix, as we experienced increases in all three of our revenue streams, Chiesi, Pfizer and Brazil," said Dror Bashan, Protalix's President and Chief Executive Officer. "We are pleased with the promising results from our first-in-human study of our gout candidate, PRX-115, in adult volunteers with elevated uric acid levels, and hope to build on this momentum with the goal of initiating a phase II clinical trial in patients with gout during the second half of 2025. At the same time, we continued to evaluate additional pipeline candidates, including PRX-119, for potential further development. Now that our debt is fully repaid and we no longer have outstanding warrants, our balance sheet is stronger and we are well-positioned to continue executing on our strategy through 2025 and beyond." Fiscal Year 2024 and Recent Business Highlights Pipeline and Clinical Developments In 2024, we successfully completed the First-in-Human (FIH) phase I clinical trial of PRX-115, our recombinant PEGylated uricase product candidate in development as a potential treatment for uncontrolled gout. The study is designed to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD; reduction of uric acid) following a single dose of PRX-115 in subjects with elevated uric acid levels. The results of the FIH study demonstrate that PRX-115 has the potential to offer an effective uric acid-lowering treatment with an added benefit of a potentially wide dosing interval, which may enhance patient compliance and treatment flexibility. Further studies are needed to confirm the long-term safety and efficacy of PRX-115 in the gout patient population. The results were presented in a late-breaking poster at the American College of Rheumatology (ACR) Convergence 2024, being held November 14-19, 2024 at the Walter E. Washington Convention Center in Washington, D.C. A copy of the poster is available on the Protalix website here: . In June 2024, we hosted an Investor Day highlighting current treatment landscapes and clinical results for Fabry disease and uncontrolled gout. The event featured presentations from key opinion leaders (KOLs) Aleš Linhart, D.Sc., FESC (Charles University, Prague) and Naomi Schlesinger, M.D. (University of Utah). Our leadership also provided insight into our strategy and future plans. The KOL presentation slides can be found in the Presentations section of the Protalix website: . Pegunigalsidase alfa In December 2024, we and our global development and commercial partner, Chiesi Global Rare Diseases, announced that the European Medicines Agency (EMA) validated the Variation Submission for pegunigalsidase alfa to label a less frequent dosing regimen at a dose of 2 mg/kg administered every four weeks in adult patients with Fabry disease. The variation submission is supported by a revised Population-PK model and new exposure-response analyses, and by the clinical data on pegunigalsidase alfa 2 mg/kg every four weeks from our completed phase III BRIGHT clinical trial of pegunigalsidase alfa (PB-102-F50) and the ongoing extension study. Corporate Developments In September 2024, we repaid in full all of the outstanding principal and interest payable under our then outstanding 7.50% Senior Secured Convertible Promissory Notes due September 2024. The repayment of the convertible notes at maturity was financed entirely with available cash. Since December 31, 2024, we issued 908,000 shares of our common stock in connection with the exercise of warrants issued in 2020 generating proceeds equal to approximately $2.1 million from such exercises. The warrants expired on March 11, 2025. Accordingly, no warrants remain outstanding. Fiscal Year 2024 Financial Highlights We recorded revenues from selling goods of $53.0 million for the year ended December 31, 2024, an increase of $12.6 million, or 31%, compared to revenues of $40.4 million for the year ended December 31, 2023. The increase resulted primarily from an increase of $11.8 million in sales to Chiesi, an increase of $0.6 million in sales to Brazil and an increase of $0.1 million in sales to Pfizer Inc., or Pfizer. We recorded revenues from license and R&D services of $0.4 million for the year ended December 31, 2024, a decrease of $24.7 million, or 98%, compared to revenues of $25.1 million for the year ended December 31, 2023. Revenues from license and R&D services are comprised primarily of revenues we recognized in connection with the Company's license and supply agreements with Chiesi Farmaceutici S.p.A., or Chiesi. The revenues from license and R&D services for the year ended December 31, 2023 included the $20.0 million regulatory milestone payment from Chiesi in connection with the approval by the U.S. Food and Drug Administration (FDA) of Elfabrio® granted during that period. The remaining decrease resulted from the completion of our revenue-generating research and development obligations with respect to Elfabrio and, as Elfabrio was approved in the United States and the European Union in May 2023, from the completion of the regulatory processes related to the review of the Biologics License Application (BLA) and the Marketing Authorization Application (MAA) for Elfabrio by the FDA and EMA, respectively. As a result of the completion of the Fabry clinical program in 2023, we expect to generate minimal revenues from license and R&D services other than potential regulatory and commercial milestone payments. Cost of goods sold was $24.3 million for the year ended December 31, 2024, an increase of $1.3 million, or 6%, compared to cost of goods sold of $23.0 million for the year ended December 31, 2023. The increase in cost of goods sold was primarily the result of the increase in sales to Chiesi. In addition, during the year ended December 31, 2023 a portion of the costs for certain drug substance sold were recognized as research and development expenses, not cost of goods sold, as such drug substance was produced as part of our research and development activities. For the year ended December 31, 2024, our total research and development expenses were approximately $13.0 million comprised of approximately $7.1 million of salary and related expenses, approximately $2.4 million in subcontractor-related expenses, approximately $0.9 million of materials-related expenses and approximately $2.6 million of other expenses. For the year ended December 31, 2023, our total research and development expenses were approximately $17.1 million comprised of approximately $7.8 million of salary and related expenses, approximately $6.3 million in subcontractor-related expenses, approximately $0.6 million of materials-related expenses and approximately $2.4 million of other expenses. Total decrease in research and developments expenses was $4.1 million, or 24%, for the year ended December 31, 2024 compared to the year ended December 31, 2023. The decrease in research and development expenses resulted primarily from the completion of our Fabry clinical program and the regulatory processes related to the BLA and MAA review of Elfabrio by the applicable regulatory agencies. Selling, general and administrative expenses were $12.2 million for the year ended December 31, 2024, a decrease of $2.8 million, or 19%, from $15.0 million for the year ended December 31, 2023. The decrease resulted primarily from a decrease of $1.8 million in professional fees and of $1.0 million in salaries and related expenses. Financial income, net was $0.2 million for the year ended December 31, 2024, compared to financial expenses, net of $1.9 million for the year ended December 31, 2023. The difference resulted primarily from a decrease of approximately $1.4 million in lower interest and related expenses due to the conversion of notes in 2023 and the September 2024 repayment in full of all the outstanding principal and interest payable under the remaining notes, as well as an increase in interest income, net of $0.7 million. For the year ended December 31, 2024, we recorded income taxes of approximately $1.2 million, an increase of $0.9 million, or 300%, compared to income taxes of $0.3 million for the year ended December 31, 2023. The income taxes resulted primarily from the provision for current taxes on income mainly derived from GILTI income mainly in respect of Section 174 of the U.S. Tax Cuts and Jobs Act, or the TCJA. Effective in 2022, Section 174 of the TCJA requires all U.S. companies, for tax purposes, to capitalize and subsequently amortize R&D expenses that fall within the scope of Section 174 over five years for research activities conducted in the United States and over 15 years for research activities conducted outside of the United States rather than deducting such costs in the current year. Cash, cash equivalents and short-term bank deposits were approximately $34.8 million at December 31, 2024. Net income for the year ended December 31, 2024 was approximately $2.9 million, or $0.04 per share, basic and diluted, compared to $8.3 million or $0.12 per share, basic, and $0.09 per share, diluted, for the same period in 2023. Conference Call and Webcast Information We will host a conference call today, March 17, 2025, at 8:30 am EDT, to review the financial results and provide a business update. To participate in the conference call, please dial the following numbers prior to the start of the call: Conference Call Details: Date: Monday, March 17, 2025 Time: 8:30 a.m. Eastern Daylight Time (EDT) Toll Free: 1-877-423-9813 International: 1-201-689-8573 Israeli Toll Free: 1-809-406-247 Conference ID: 13752080 Call me™: The Call me™ feature allows you to avoid the wait for an operator; you enter your phone number on the platform and the system calls you right away. Webcast Details: The conference will be webcast live from the Protalix website and will be available via the following links: Company Link: Webcast Link: Conference ID: 13752080 Participants are requested to access the websites at least 15 minutes ahead of the conference to register, download and install any necessary audio software. A replay of the call will be available for two weeks on the Events Calendar of the Investors section of the Protalix website, at the above link. About Protalix BioTherapeutics, Inc. Protalix is a biopharmaceutical company focused on the development and commercialization of recombinant therapeutic proteins expressed through its proprietary plant cell-based expression system, ProCellEx. It is the first company to gain U.S. Food and Drug Administration (FDA) approval of a protein produced through plant cell-based in suspension expression system. This unique expression system represents a new method for developing recombinant proteins in an industrial-scale manner. Protalix has licensed to Pfizer Inc. the worldwide development and commercialization rights to taliglucerase alfa for the treatment of Gaucher disease, Protalix's first product manufactured through ProCellEx, excluding in Brazil, where Protalix retains full rights. Protalix's second product, Elfabrio®, was approved by both the FDA and the European Medicines Agency in May 2023. Protalix has partnered with Chiesi Farmaceutici S.p.A. for the global development and commercialization of Elfabrio. Protalix's development pipeline consists of proprietary versions of recombinant therapeutic proteins that target established pharmaceutical markets, including the following product candidates: PRX–115, a plant cell-expressed recombinant PEGylated uricase for the treatment of uncontrolled gout; PRX–119, a plant cell-expressed long acting DNase I for the treatment of NETs-related diseases; and others. Forward-Looking Statements To the extent that statements in this press release are not strictly historical, all such statements are forward-looking, and are made pursuant to the safe-harbor provisions of the Private Securities Litigation Reform Act of 1995. The terms "anticipate," "believe," "estimate," "expect," "can," "continue," "could," "intend," "may," "plan," "potential," "predict," "project," "should," "will," "would" and other words or phrases of similar import are intended to identify forward-looking statements. These forward-looking statements are subject to known and unknown risks and uncertainties that may cause actual future experience and results to differ materially from the statements made. These statements are based on our current beliefs and expectations as to such future outcomes. Drug discovery and development involve a high degree of risk and the final results of a clinical trial may be different than the preliminary findings for the clinical trial. Factors that might cause material differences include, among others: risks related to the commercialization of Elfabrio® (pegunigalsidase alfa-iwxj), our approved product for the treatment of adult patients with Fabry disease; risks relating to Elfabrio's market acceptance, competition, reimbursement and regulatory actions, including as a result of the boxed warning contained in the FDA) approval received for the product; the possible disruption of our operations due to the war declared by Israel's security cabinet against the Hamas terrorist organization located in the Gaza Strip, the military campaign against the Hezbollah and other terrorist activities and armed conflict, including as a result of the disruption of the operations of certain regulatory authorities and of certain of our suppliers, collaborative partners, licensees, clinical trial sites, distributors and customers, and the risk that the current hostilities will result in a greater regional conflict; risks related to the regulatory approval and commercial success of our other product and product candidates, if approved; risks related to our expectations with respect to the projected market of our products and product candidates; failure or delay in the commencement or completion of our preclinical studies and clinical trials, which may be caused by several factors, including: slower than expected rates of patient recruitment; unforeseen safety issues; determination of dosing issues; lack of effectiveness during clinical trials; inability to satisfactorily demonstrate non-inferiority to approved therapies; inability or unwillingness of medical investigators and institutional review boards to follow our clinical protocols; inability to monitor patients adequately during or after treatment; and/or lack of sufficient funding to finance our clinical trials; delays in the approval or potential rejection of any applications we file with the FDA, EMA or other health regulatory authorities for our other product candidates, and other risks relating to the review process; risks associated with global conditions and developments such as new or increased tariffs, new trade restrictions, supply chain challenges, the inflationary environment and tight labor market, and instability in the banking industry, which may adversely impact our business, operations and ability to raise additional financing if and as required and on terms acceptable to us; risks related to any transactions we may effect in the public or private equity or debt markets to raise capital to finance future research and development activities, general and administrative expenses and working capital; risks relating to our evaluation and pursuit of strategic partnerships; the risk that the results of our clinical trials will not support the applicable claims of safety or efficacy and that our product candidates will not have the desired effects or will be associated with undesirable side effects or other unexpected characteristics; risks relating to our ability to manage our relationship with our collaborators, distributors or partners, including, but not limited to, Pfizer and Chiesi; risks related to the amount and sufficiency of our cash and cash equivalents and short-term bank deposits; risks relating to changes to interim, top-line or preliminary data from clinical trials that we announce or publish; risks relating to the compliance by Fundação Oswaldo Cruz, an arm of the Brazilian Ministry of Health, with its purchase obligations under our supply and technology transfer agreement, which may have a material adverse effect on us and may also result in the termination of such agreement; risk of significant lawsuits, including stockholder litigation, which is common in the life sciences sector; our dependence on performance by third-party providers of services and supplies, including without limitation, clinical trial services; the inherent risks and uncertainties in developing drug platforms and products of the type we are developing; the impact of development of competing therapies and/or technologies by other companies; risks related to our supply of drug products to Pfizer; potential product liability risks, and risks of securing adequate levels of related insurance coverage; the possibility of infringing a third-party's patents or other intellectual property rights and the uncertainty of obtaining patents covering our products and processes and successfully enforcing our intellectual property rights against third-parties; risks relating to changes in healthcare laws, rules and regulations in the United States or elsewhere; and other factors described in our filings with the U.S. Securities and Exchange Commission. The statements in this press release are valid only as of the date hereof and we disclaim any obligation to update this information, except as may be required by law. Investor Contact Mike Moyer, Managing Director LifeSci Advisors +1-617-308-4306 [email protected] Logo - SOURCE Protalix BioTherapeutics, Inc. WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

Phase 1Drug ApprovalFinancial StatementClinical ResultPhase 3

03 Feb 2025

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Chiesi Global Rare Diseases Announces Multiple Presentations at 21st Annual WORLDSymposium™ Research Meeting

- Presenting 11 abstracts with range of insights on diagnosis and management of Fabry disease and alpha-mannosidosis and clinical data on pegunigalsidase alfa and velmanase alfa – - Results include 10-year data from study of velmanase alfa – - Organizing and funding two satellite symposia showcasing insights from panel of global clinical experts in lysosomal diseases, focusing on how to optimize treatment strategies – PARMA, Italy, Feb. 3, 2025 /PRNewswire/ -- Chiesi Global Rare Diseases, a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people living with rare diseases, today announced that 11 poster presentations have been accepted at the 21st Annual WORLDSymposium™ Research Meeting to be held February 3-7, 2025, in San Diego, California. The presentations include long-term data up to 10 years of treatment with velmanase alfa in patients with alpha-mannosidosis. Additionally, the presentations cover advances in the understanding of patient tolerability while on treatment and strategies for incorporating both patient and caregiver perspectives in disease management. "We are pleased to have the opportunity to present a wide range of clinical data and insights related to the diagnosis, treatment and appropriate monitoring of people living with Fabry disease and alpha-mannosidosis at the WORLDSymposium," said Giacomo Chiesi, Executive Vice President of Chiesi Global Rare Diseases. "As part of our mission to improve patient outcomes for the lysosomal disease community, we are committed to continual learning, listening and partnering with patients, caregivers and families to improve disease management strategies and evaluating long-term clinical data to better understand the impact of treatment." Poster Presentations Pegunigalsidase alfa and adults with Fabry disease Title: Lower rate of infusion-related reactions in patients with Fabry disease after switching from agalsidase beta to pegunigalsidase alfa Presenter: Nicola Longo, M.D., Chief of the Division of Medical Genetics at the University of Utah Title: Improved tolerability following enzyme replacement therapy switch to pegunigalsidase alfa: A case series from two centers of the expanded access program Presenter: Myrl D. Holida, Physician Assistant at the University of Iowa Health Care Title: Evaluating the relationship between infusion-related reactions and antidrug antibody status: Results from 111 patients with Fabry disease treated with pegunigalsidase alfa Presenter: Robert Hopkin, M.D., Clinical Geneticist at Cincinnati Children's Hospital Medical Center Title: Clinical assessment of disease severity in patients with Fabry disease treated with pegunigalsidase alfa: An integrated analysis Presenter: Derralynn Hughes, M.D., Professor of Experimental Haematology at the University College London Title: Indirect treatment comparisons of pegunigalsidase alfa vs other therapies for left ventricular mass index in Fabry disease Presenter: Eric Wallace, M.D., Co-Director of the University of Alabama at Birmingham Fabry Disease Clinic Title: Awareness of Fabry disease among non-Fabry specialists: Opportunities for education Presenter: Thomas Kenny, Patient Advocacy Lead, Chiesi Limited Title: Maximising engagement through feedback: Insights from shared decision-making toolkit for Fabry disease patients Presenter: Thomas Kenny, Patient Advocacy Lead, Chiesi Limited Title: Speaking the same language: The Fabry lexicon and the implications for how the healthcare community understands the impact of ERT Presenter: Thomas Kenny, Patient Advocacy Lead, Chiesi Limited Velmanase alfa and alpha-mannosidosis Title: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry Presenter: Nicole Muschol, M.D., International Center for Lysosomal Disorders (ICLD) at the University Medical Center Hamburg-Eppendorf in Germany Title: Long-term motor function and quality of life outcomes in patients with alpha-mannosidosis: Data from two velmanase alfa extension studies over 10 years Presenter: Nathalie Guffon, M.D., Reference Centre of inherited metabolic disease in Femme Mère Enfant Hospital, Hospices Civils of Lyon, France Title: Real world reflections of the patient odyssey in alpha-mannosidosis: Insights and challenges in diagnosis from caregiver interviews Presenter: Sonia Sgrò, Global Head Patient Advocacy, Lysosomal Storage Disorders (LSDs) at Chiesi Global Rare Diseases Chiesi Global Rare Diseases is also organizing and funding two satellite symposia during the WORLDSymposium: Title: Enzyme Replacement Therapy: Time to Act in Lysosomal Diseases Date and Time: Tuesday, February 4, 2025 from 5:45-6:45 p.m. PT A panel of global clinical experts will discuss current knowledge of lysosomal diseases and appropriate management strategies for patients on enzyme replacement therapy including the potential for switching therapies given the availability of multiple treatment options. Title: Red Light, Green Light: What About the Yellow Light? Exploring the Complexities of Treatment Tolerability in Fabry Disease Date and Time: Wednesday, February 5, 2025 from 12:15-1:15 p.m. PT Presenters will explore the mechanisms and patient-specific factors that influence the tolerability of enzyme replacement therapies in Fabry disease, discuss pegunigalsidase alfa tolerability data, and highlight potential future directions towards enhancing patient outcomes. Indication and Important Safety Information for Elfabrio® (pegunigalsidase alfa-iwxj) Indication Elfabrio® (pegunigalsidase alfa-iwxj) is indicated for the treatment of adults with confirmed Fabry disease. Important Safety Information Prior to Elfabrio administration, consider pretreating with antihistamines, antipyretics, and/or corticosteroids. Inform patients and caregivers of the signs and symptoms of hypersensitivity reactions and infusion-associated reactions (IARs), and instruct them to seek medical care immediately if such symptoms occur. If a severe hypersensitivity reaction (including anaphylaxis) or severe IAR occurs, immediately discontinue Elfabrio administration and initiate appropriate medical treatment. If a mild to moderate hypersensitivity reaction or IAR occurs, consider slowing the infusion rate or temporarily withholding the dose. In clinical trials, 20 (14%) Elfabrio-treated patients experienced hypersensitivity reactions. Four Elfabrio-treated patients (3%) experienced anaphylaxis reactions that occurred within 5 to 40 minutes of the start of the initial infusion. The signs and symptoms of hypersensitivity reactions and anaphylaxis included headache, nausea, vomiting, throat tightness, facial and oral edema, truncal rash, tachycardia, hypotension, rigors, urticaria, intense pruritus, moderate upper airway obstructions, macroglossia, and mild lip edema. In clinical trials, 41 (29%) Elfabrio-treated patients experienced one or more infusion-associated reactions, including hypersensitivity, nausea, chills, pruritus, rash, chest pain, dizziness, vomiting, asthenia, pain, sneezing, dyspnea, nasal congestion, throat irritation, abdominal pain, erythema, diarrhea, burning sensation, neuralgia, headache, paresthesia, tremor, agitation, increased body temperature, flushing, bradycardia, myalgia, hypertension, and hypotension. A case of membranoproliferative glomerulonephritis with immune depositions in the kidney was reported during clinical trials. Monitor serum creatinine and urinary protein-to-creatinine ratio. If glomerulonephritis is suspected, discontinue treatment until a diagnostic evaluation can be conducted. When switching to Elfabrio from a prior enzyme replacement therapy, the risk of hypersensitivity reactions and infusion-associated reactions may be increased in certain patients with pre-existing anti-drug antibodies (ADAs). Consider monitoring IgG and IgE ADAs and clinical or pharmacodynamic response (eg, plasma lyso-Gb3 levels). The most common adverse reactions (≥15%) were infusion-associated reactions, nasopharyngitis, headache, diarrhea, fatigue, nausea, back pain, pain in extremity, and sinusitis. Please see Full Prescribing Information for Elfabrio . Indication and Important Safety Information for Lamzede® (velmanase alfa-tycv) Indication Lamzede® (velmanase alfa-tycv) is indicated for the treatment of non-central nervous system manifestations of alpha-mannosidosis in adult and pediatric patients. Important Safety Information Considerations Due to Hypersensitivity Reactions and/or Infusion-Associated Reactions (IARs) Prior to Lamzede administration, consider pretreating with antihistamines, antipyretics, and/or corticosteroids. Inform patients and caregivers of the signs and symptoms of hypersensitivity reactions and IARs and instruct them to seek medical care immediately if such symptoms occur. If a severe hypersensitivity reaction (including anaphylaxis) or severe IAR occurs, immediately discontinue Lamzede administration and initiate appropriate medical treatment. In the event of a mild to moderate hypersensitivity reaction or a mild to moderate IAR, consider temporarily holding the infusion for 15 to 30 minutes, slowing the infusion rate to 25% to 50% of the recommended rate, and initiating appropriate medical treatment. Hypersensitivity Reactions Including Anaphylaxis Anaphylaxis and severe hypersensitivity signs and symptoms included cyanosis, hypotension, emesis, urticaria, erythema, facial swelling, pyrexia, and tremor. Infusion-Associated Reactions (IARs) The most frequent symptoms of IARs that occurred in >10% of the population were pyrexia, chills, erythema, vomiting, cough, urticaria, rash, and conjunctivitis. Females of Reproductive Potential Advise females of reproductive potential to use effective contraception during treatment and for 14 days after the last dose if Lamzede is discontinued. For females of reproductive potential, verify that the patient is not pregnant prior to initiating treatment with Lamzede. Embryo-Fetal Toxicity Based on findings from animal reproduction studies, Lamzede may cause embryo-fetal harm when administered to a pregnant female. Common Adverse Reactions The most common adverse reactions (incidence >20%) are hypersensitivity reactions including anaphylaxis, nasopharyngitis, pyrexia, headache, and arthralgia. Please see Full Prescribing Information for Lamzede. About Chiesi Global Rare Diseases Chiesi Global Rare Diseases is a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people affected by rare diseases. As a family business, Chiesi Group strives to create a world where it is common to have a therapy for all diseases and acts as a force for good, for society and the planet. The goal of the Global Rare Diseases unit is to ensure equal access so as many people as possible can experience their most fulfilling life. The unit collaborates with the rare disease community around the globe to bring voice to underserved people in the health care system. For more information visit . About Chiesi Group Chiesi is a research-oriented international biopharmaceutical group that develops and markets innovative therapeutic solutions in respiratory health, rare diseases, and specialty care. The company's mission is to improve people's quality of life and act responsibly towards both the community and the environment. By changing its legal status to a Benefit Corporation in Italy, the US, and France, Chiesi's commitment to create shared value for society as a whole is legally binding and central to company-wide decision-making. As a certified B Corp since 2019, we're part of a global community of businesses that meet high standards of social and environmental impact. The company aims to reach Net-Zero greenhouse gases (GHG) emissions by 2035. With over 85 years of experience, Chiesi is headquartered in Parma (Italy), with 31 affiliates worldwide, and counts more than 7,000 employees. The Group's research and development centre in Parma works alongside 6 other important R&D hubs in France, the US, Canada, China, the UK, and Sweden. For further information please visit . Chiesi Group Media Contacts Chiara Travagin Head of Communications, Rare Diseases Tel: +39 348 8818985 Email: [email protected] Jenna Urban CG Life Tel: +1 212 253 8881 Email: [email protected] PP-RA-00518 V1.0 SOURCE Chiesi Global Rare Diseases WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

Clinical Result

02 Jan 2025

·fabrydiseasenews.com

Top 10 Fabry disease news stories of 2024

Throughout 2024, the team at Fabry Disease News brought our readers all the latest updates on research related to Fabry disease and advances in diagnosis and treatment.Here is a list of the 10 most-read articles of last year. We look forward to continuing to be a resource to the Fabry community, and sharing informative stories with you, in 2025.A U.S. clinical trial designed to test a gene therapy for Fabry disease dosed its first participant in August. Fabry is caused by mutations in the GLA gene, and this therapy, called AMT-191, aims to deliver a healthy copy of the GLA gene to cells in the liver. The clinical trial, sponsored by AMT-191’s developer uniQure, is expected to test two doses of the gene therapy in a dozen patients, with a main goal of assessing the treatment’s safety. The trial is still recruiting adults with Fabry disease, ages 18 to 50, at sites in New York and Virginia. Eligible patients will have had a suboptimal response after at least one year of enzyme replacement therapy.Read this story hereData from two clinical trials testing a gene therapy for Fabry disease suggested that the experimental treatment may improve heart function. The trials are testing 4D-310, a gene therapy developed by 4D Molecular Therapeutics, that aims to deliver a healthy copy of the defective GLA gene specifically to cells in the heart — an organ that’s often hit hard by Fabry disease and that typically does not show much benefit with the use of currently available treatments. In addition to showing promising effects on heart function after one to two years, available data suggested that this gene therapy may help improve patients’ quality of life.Read this story hereLooking for damage to small nerve fibers may help doctors identify Fabry disease, according to a retrospective study of more than two dozen patients. Clinical outcomes in Fabry patients are generally best when treatment is started as early as possible, so diagnosing the disease quickly is crucial to get the best outcomes for patients, the researchers noted. Nonetheless, people with Fabry often face long delays in getting a correct diagnosis. This study found that many people with Fabry show evidence of damage to small nerve fibers, implying that looking for this type of damage could help aid in the diagnostic process.Read this story hereTreatment with Elfabrio (pegunigalsidase alfa) slowed the progression of kidney disease in adults with Fabry disease, data from a clinical trial showed. Elfabrio is an enzyme replacement therapy for Fabry that was developed by Protalix Biotherapeutics and Chiesi Global Rare Diseases. The treatment was approved in the U.S. last year based in part on data from a Phase 3 clinical trial. Final published data from the trial showed that treatment with Elfabrio slowed decline in kidney function, a common complication of Fabry disease.Read this story herePeople with Fabry disease have higher than normal levels of certain inflammatory proteins in their blood, a study found. Inflammation has long been thought to play a role in Fabry, but the link between inflammation and disease progression is not fully understood. This study found that Fabry patients with higher levels of inflammatory markers tend to have more severe disease. Data also suggested that approved Fabry treatments may help lower inflammatory markers.Read this story hereInterim data from the Phase 1/2 STAAR clinical trial that’s testing the safety of ST-920 (isaralgagene civaparvovec) — an experimental gene therapy for Fabry being developed by Sangamo Therapeutics — suggest that the treatment is well tolerated. Two serious safety issues, specifically one instance of fever and one of muscle pain, were reported among the trial’s more than 30 participants. Available data also hint that this gene therapy seems to be working as intended, with patients experiencing stabilized kidney function, lessened disease severity, and better life quality. The trial is expected to conclude later this year.Read this story hereAn international team of scientists created a mathematical model to help identify Fabry disease using data routinely collected by insurance providers. The new algorithm essentially works by looking for patterns of insurance claims that are more frequently seen in people with Fabry, with the model showing promise particularly for young and/or female potential patients. The researchers hope that this tool could ultimately help Fabry patients get diagnosed faster and more efficiently.Read this story hereEarly last year, the U.S. Food and Drug Administration signaled that data from one well-designed clinical trial could be enough to support approval of ST-920, Sangamo’s gene therapy for Fabry disease. The agency said that approval could potentially be considered based on data from one further trial, added to available evidence including data from the ongoing Phase 1/2 STAAR clinical study. ST-920 has been awarded orphan drug status in both the U.S. and the European Union — a designation aimed at speeding the development of treatments for rare diseases with various incentives.Read this story hereThe case of a 46-year-old man in Europe who was diagnosed with Fabry after complaining of an unexplained, chronic cough highlighted the symptom as a possible sign of the disease, according to a report by clinicians in Poland. Lung problems like chronic cough can be a symptom of Fabry, but they are often overlooked by clinicians, the researchers noted. As such, these scientists emphasized that doctors should consider the possibility of Fabry in people with unexplained lung symptoms, especially if other potential signs of the disease are present.Read this story hereClinicians caring for people with unexplained chronic pain should be on the lookout for Fabry disease, scientists argued in a study from France. Their report described outcomes from a program in which nearly 1,000 people with chronic pain were systematically evaluated for Fabry, leading to a diagnosis of the disorder in one individual. That result shows that, while Fabry is rare among people with chronic pain, it may be the cause of symptoms for some people.Read this story hereWe at Fabry Disease News hope these stories and all our reporting made us a helpful source of information throughout 2024, and we wish all our readers a bright new year!

Phase 3Orphan DrugDrug ApprovalClinical ResultGene Therapy

100 Deals associated with Pegunigalsidase alfa

External Link

KEGG	Wiki	ATC	Drug Bank
D11685	-	-	DB14992

R&D Status

Approved

10 top approved records.

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Indication	Country/Location	Organization	Date
Fabry Disease	Norway	CHIESI Farmaceutici SpA	04 May 2023
Fabry Disease	Iceland	CHIESI Farmaceutici SpA	04 May 2023
Fabry Disease	Liechtenstein	CHIESI Farmaceutici SpA	04 May 2023
Fabry Disease	European Union	CHIESI Farmaceutici SpA	04 May 2023

Developing

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Indication	Highest Phase	Country/Location	Organization	Date
Fabry Disease	Preclinical	United Kingdom	Protalix Biotherapeutics, Inc.	01 Jun 2016
Fabry Disease	Preclinical	Switzerland	CHIESI Farmaceutici SpA	01 Jun 2016
Fabry Disease	Preclinical	Czechia	Protalix Biotherapeutics, Inc.	01 Jun 2016
Fabry Disease	Preclinical	Netherlands	Protalix Biotherapeutics, Inc.	01 Jun 2016
Fabry Disease	Preclinical	Norway	Protalix Biotherapeutics, Inc.	01 Jun 2016
Fabry Disease	Discovery	Norway	Protalix Biotherapeutics, Inc.	01 Jun 2016
Fabry Disease	Discovery	United Kingdom	Protalix Biotherapeutics, Inc.	01 Jun 2016
Fabry Disease	Discovery	Czechia	Protalix Biotherapeutics, Inc.	01 Jun 2016
Fabry Disease	Discovery	Switzerland	CHIESI Farmaceutici SpA	01 Jun 2016
Fabry Disease	Discovery	Netherlands	Protalix Biotherapeutics, Inc.	01 Jun 2016

Clinical Result

Indication

Phase

Evaluation

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Study	Phase	Population	Analyzed Enrollment	Group	Results	Evaluation	Publication Date


NCT02795676 (BALANCE, Pubmed \| J Med Genet)	Phase 3	Fabry Disease lyso-Gb3 concentrations	-	Pegunigalsidase alfa 1 mg/kg	wlrdmfopap(jhmqvrnayd) = mzixrzqids wtfzymzfgw (qgossfzbkx )	Positive	01 Jun 2024
				Agalsidase beta 1 mg/kg	wlrdmfopap(jhmqvrnayd) = ifluzbnypq wtfzymzfgw (qgossfzbkx )
NCT02795676 (BALANCE, PRNewswire) Manual	Phase 3	Fabry Disease	77	pegunigalsidase alfa-iwxj	(qgfruarljc) = btukxazdoy jdsxqiftxy (bwvkacctff ) View more	Positive	10 Jan 2024
				agalsidase beta	(qgfruarljc) = btshifpema jdsxqiftxy (bwvkacctff ) View more
NCT03018730 (BRIDGE, Pubmed \| Orphanet J Rare Dis)	Phase 3	Fabry Disease plasma lyso-Gb3 level	-	Pegunigalsidase alfa 1 mg/kg	fokshfskaa(fzbpwykumc) = 35% out of 20 patients were positive for pegunigalsidase alfa antidrug antibodies (ADAs) at ≥ 1 study timepoint, two of whom had pre-existing ADAs at baseline ydeqxccxsl (sskfljoumq ) View more	Positive	21 Oct 2023
SSIEM2023	Not Applicable	-	142	Pegunigalsidase alfa	(xorzpwdobr) = 25% of pts had an IRR etngptfqzp (snytodkajd ) View more	-	30 Aug 2023
NCT02795676 (BALANCE study \| BALANCE, CTgov)	Phase 3	Fabry Disease	78	PRX-102 (pegunigalsidase alfa) (PRX-102 (Pegunigalsidase Alfa))	btcezjyciz(kntmrwcuny) = trdlfyisxn zkyaiksojc (rhewanzkpn, aaruoqrglx - etwdbdzsdy) View more	-	02 Aug 2023
				agalsidase beta (Agalsidase Beta)	btcezjyciz(kntmrwcuny) = kjkdcgqqcb zkyaiksojc (rhewanzkpn, slcbpqyngr - cpjjmgzdkx) View more
NCT03566017 (FDA) Manual	Phase 3	Fabry Disease	77	ELFABRIO	ekbgthyccy(ehupunqxgu) = blqtiisoiy imznxkdkor (lciyaejsin ) View more	Positive	09 May 2023
				agalsidase beta	ekbgthyccy(ehupunqxgu) = pnsqsxrbmt imznxkdkor (lciyaejsin )
NCT01678898 (FDA) Manual	Phase 1/2	Fabry Disease	14	ELFABRIO	vvvkvqefcj(imwobwcyoj) = sxwhtuughw rgiedghsfb (cnlxhskppr ) View more	Positive	09 May 2023
				ELFABRIO (Males)	vvvkvqefcj(imwobwcyoj) = sjmmgggevj rgiedghsfb (cnlxhskppr ) View more
EMA Manual	Phase 1/2	Fabry Disease	13	Elfabrio	qldwoxnall(khxjrhisvu) = udciexzqgp acxolpkhwb (mibdzctqcf ) View more	Positive	08 May 2023
NCT03180840 (BRIGHT, SSIEM2022)	Phase 3	Fabry Disease Maintenance α-galactosidase A	30	Pegunigalsidase alfa 2.0 mg/kg	iogtroynxe(xebkllxlrn) = qxskbbijdp teynsocndz (krfxbmtqes )	Positive	30 Aug 2022
SSIEM2022	Not Applicable	Fabry Disease	-	Pegunigalsidase alfa	zxrfdlresu(dhwdeyvyjc) = hwenhlthfm gjpinxueyd (anbztmktum )	-	30 Aug 2022

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