Chiesi Global Rare Diseases Highlights Continued Commitment to Rare Disease Community at the International Congress of Inborn Errors of Metabolism (ICIEM) 2025
Results presented focus on clinical insights on Fabry disease and alpha-mannosidosis
Additional presentations showcase patient-reported journeys and outcomes
PARMA, Italy, Sept. 09, 2025 (GLOBE NEWSWIRE) -- 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 the presentation of nine abstracts at the International Congress of Inborn Errors of Metabolism (ICIEM) 2025, held September 2-6, 2025, in Kyoto, Japan. Focused on Fabry disease and alpha-mannosidosis, these presentations showcase patient-reported journeys and outcomes, alongside integrated results from clinical research in Fabry Disease.
As part of Chiesi’s commitment to advancing dialogue in the field, the company also hosted a medical symposium titled “Catching the Clues, Changing the Course of LSDs: Illuminating the Complex Pathways of Rare Disease with Fabry Disease and Alpha-Mannosidosis in Focus.” The symposium explored the shared patient journey and challenges across the lysosomal storage disorder (LSD) care continuum, using Fabry disease and alpha-mannosidosis as illustrative examples.
“These presentations reflect our ongoing commitment to not only advancing scientific understanding of Fabry disease and alpha-mannosidosis, but also amplifying the voices and lived experiences of the people affected,” said Mitch Goldman, Senior Vice President R&D, Chiesi Global Rare Diseases. “By combining clinical research with insights from patients and caregivers, we’re working to develop more holistic solutions to potentially address the needs of the rare disease community.”
Professor Yoshikatsu Eto, Advanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Kanagawa, Japan, added “The breadth of research presented, from clinical insights to patient-reported outcomes, reflects a growing commitment to understanding the full impact of these ultra-rare diseases. It’s encouraging to see continued collaboration between industry, clinicians, and patient communities to drive forward both scientific discovery and inform best practices of care.”
Details of the presentations are as follows:
Title: Exploring Patient-Reported Experiences with Symptom Worsening, Breakthrough, and Disease Monitoring, based on Treatment Status and Type: Results from a Double-Blind, Cross-Sectional Survey
Presenter: Irene Koulinska, M.D., Chiesi Global Rare Diseases
Summary: This study surveyed 238 adults with Fabry disease in the US and Canada, examining experiences with symptom worsening and disease monitoring, highlighting communication gaps between patients and physicians. 62% of treated patients rated their disease monitoring as excellent, compared to lower rates among treatment-naïve patients (20%) and those who discontinued therapy (29%). Common challenges included symptom progression, increased use of co-medications, and infusion-related issues, varying by enzyme replacement therapy (ERT) type.
Title: Evaluating the relationship between antidrug antibodies and infusion-related reactions/ safety outcomes in patients with Fabry disease receiving enzyme replacement therapy (ERT): a systematic literature review
Presenter: Patricio Aguiar, M.D., Ph.D., Lisbon University
Summary: A systematic literature review was conducted to evaluate the relationship between antidrug antibodies (ADAs) and safety/tolerability outcomes in patients with Fabry disease receiving ERT. Across six studies, most findings reported a positive association between ADA-positivity and an increased risk of infusion-related reactions (IRRs) and adverse events. Small sample sizes, retrospective designs, inconsistent ADA assessments, and variability in safety and tolerability outcomes limit the interpretation of these findings. The review also highlighted substantial variability in ADA assessment protocols, underscoring the need for future research to adopt standardized, validated methods to enhance the comparability and reliability of findings.
Title: Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: five-year interim results from the ongoing BRIGHT51 study
Presenter: John A. Bernat, M.D., Ph.D., University of Iowa Health Care
Summary: A 5-year interim analysis from the ongoing BRIGHT51 study (NCT03614234) shows that long-term treatment with pegunigalsidase alfa 2 mg/kg every four weeks (E4W) continues to be well tolerated in stable adults with Fabry disease who switched from other enzyme replacement therapies. Among 29 participants, treatment-related adverse events were mild, and no serious events were reported. IRRs affected 31% of patients, mainly within the first year, and were more common among those with baseline ADA. Pain and quality of life remained stable; however, further research is needed to evaluate the long-term effects on kidney function. These findings support the ongoing evaluation of pegunigalsidase alfa E4W for long-term safety and effectiveness.
Title: Evaluating the relationship between infusion-related reactions and antidrug antibody status: results from 109 patients with Fabry disease treated with pegunigalsidase alfa
Presenter: John A. Bernat, M.D., Ph.D., University of Iowa Health Care
Summary: Across the clinical program, an analysis of 109 patients receiving pegunigalsidase alfa 1 mg/kg, both ERT-naïve and ERT-switch, showed that 76% experienced no infusion-related reactions (IRRs), while 24% experienced IRRs, most of which occurred within the first year of treatment. Patients with antidrug antibodies (ADAs), especially those with higher titers, were more likely to experience IRRs. However, 19% of patients with baseline ADAs had no IRRs, suggesting that specific ADA characteristics, rather than ADA presence alone, may influence IRR risk.
Title: Clinical assessment of disease severity in patients with Fabry disease treated with pegunigalsidase alfa: an integrated analysis
Presenter: John A. Bernat, M.D., Ph.D., University of Iowa Health Care
Summary: Across the clinical program, analysis of 87 patients treated with pegunigalsidase alfa showed that disease severity, as measured by the Mainz Severity Score Index (MSSI), improved or remained stable over 24 months. In ERT-naive patients, the proportion with mild MSSI scores rose from 50% at baseline to 81% at month 12. In ERT-switch patients, scores remained stable, with a slight trend toward improvement by month 24. All MSSI domains showed positive changes as early as month 6, supporting the potential of pegunigalsidase alfa to stabilize or reduce Fabry disease burden over the long term.
Title: Navigating the real-world challenges of alpha-mannosidosis patients and caregivers: Understanding their journeys during, and after, diagnosis
Presenter: Nato V. Vashakmadze, M.D., Ph.D., Pirogov Russian National Research Medical University
Summary: This study, based on surveys from 12 caregivers of 16 patients with alpha-mannosidosis across Russia, Spain, and Turkey, explored the real-world challenges families face, including isolation, limited disease information, scarce support services, and the burden of educating local healthcare providers due to low awareness. The findings underscore a pressing need for enhanced support systems and more comprehensive disease education.
Title: The Real-World Journey of Patients with Alpha-Mannosidosis: A Retrospective US Claims Database Study
Presenter: Robert. J. Hopkin, M.D., Cincinnati Children's Hospital Medical Center
Summary: This retrospective open-claims analysis utilized tokenized data from 37 patients to depict the clinical burden and disease trajectory of alpha-mannosidosis. Early-onset cases were marked by elevated rates of hearing loss, developmental delays, and congenital anomalies, while adulthood was characterized by prevalent musculoskeletal complications, pain, and mobility challenges, accompanied by increased healthcare resource utilization as the disease advanced.
Title: Changes in clinical manifestations in patients with alpha-mannosidosis treated with velmanase alfa therapy in the French Etoile Alpha registry
Presenter: Nathalie Guffon, M.D., Femme Mère Enfant Hospital in Lyon
Summary: A retrospective analysis of 16 patients with alpha-mannosidosis treated with velmanase alfa (VA) in France, using data from the national Etoile Alpha registry, showed significant improvements in motor, quality of life, and psychological domains (p < 0.0001), with 47.4% of 247 clinical manifestations improving and 52.6% stabilizing after ~4.7 years of treatment. No clinical category experienced decline, with neuromuscular and skeletal/osteoarticular symptoms being the most common and largely stable. These real-world findings support the long-term clinical benefit of VA in managing alpha-mannosidosis.
Title: Breaking Barriers in Lysosomal Storage Disorder Diagnosis: Using Machine Learning and No-Cost Genetic Testing to Improve Early Detection and Access
Presenter: Robert. J. Hopkin, M.D., Cincinnati Children's Hospital Medical Center
Summary: This study employed a machine learning–driven platform to analyze 21,500 self- or proxy-reported symptom assessments. 485 individuals identified as at-risk were offered complimentary genetic testing, with 184 providing samples for whole-exome sequencing. 10 tested positive for LSD variants, revealing pathogenic, likely pathogenic, and variants of uncertain significance across 10 genes. These findings illustrate the potential of AI-guided testing to broaden access to rare disease diagnostics and emphasize the importance of physician education and carrier family support to close diagnostic gaps.
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, France and Colombia, Chiesi’s commitment to creating shared value for society as a whole is legally binding and central to company-wide decision-making. As a certified B Corp since 2019, Chiesi is 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 90 years of experience, Chiesi is headquartered in Parma (Italy), with 31 affiliates worldwide, and counts more than 7,500 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.
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 living with 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 www.chiesirarediseases.com
About Chiesi in Japan
Chiesi Group has expanded its global presence with the establishment of Chiesi Japan in 2022. As part of the Group’s commitment to scientific advancement and international collaboration, Chiesi Japan serves as a regional base to support medical and research communities, contributing to ongoing efforts in the field of rare diseases.
Chiesi Global Rare Diseases Media Contact
Sky Striar
LifeSci Communications
sstriar@lifescicomms.com
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