Chiesi在SSIEM会议展示Fabry病和alpha-mannosidosis研究摘要，未披露新增商业或监管催化

-- Chiesi’s abstract presentations highlight clinical insights and patient-reported outcomes in
Fabry disease and alpha-mannosidosis --
-- Rooted in patient voice and scientific rigor, this research reflects Chiesi’s long-standing role in advancing science for the
lysosomal storage disorders
community --
PARMA, Italy, Aug. 28, 2026 (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 presentations at the Society of Inborn Errors of Metabolism (SSIEM) 2026 Annual Symposium, held August 25-28, 2026, in Helsinki, Finland. The company is proud to support 13 scientific abstracts across Fabry disease and alpha-mannosidosis, including 6 Chiesi-led presentations and 7 independent studies supported by Chiesi through scientific research grants and educational projects. These abstracts reflect the scope of the Company's scientific engagement with the lysosomal storage disorders (LSDs) and rare disease communities.
These abstracts highlight the breadth of research advancing the understanding of Fabry disease and alpha-mannosidosis. Chiesi-led presentations include long-term Phase 3 data from the F60/BRILLIANCE trial, patient-reported outcomes from a cross-sectional survey in untreated Fabry disease, and research exploring earlier diagnosis and genotype–phenotype relationships in alpha-mannosidosis. Independent studies supported by Chiesi examine real-world clinical experience, disease biology, biomarkers, and newborn screening. Together, this research contributes to a growing body of evidence to advance understanding of disease burden, diagnosis, and long-term management in rare diseases.
“Rare disease care demands patience, precision, and an unwavering focus on the people we're ultimately trying to help. The data presented at this year's SSIEM Annual Symposium reflects years of collaboration with investigators, clinicians, and the Fabry disease and alpha-mannosidosis communities,”
said Enrico Piccinini, Senior Vice President, Europe and International, Chiesi Global Rare Diseases.
“From new tools that could help identify diagnosis earlier to long-term data on treatment outcomes, this research is united by a single goal: better understanding the experiences of people living with rare diseases and using those insights to help inform care. We're proud to have shared these findings with the broader scientific community and remain devoted to advancing solutions that make a meaningful difference.”
“This body of evidence spans long-term clinical trial data, real-world outcomes, and new biomarker research, contributing to a more comprehensive understanding of disease progression and unmet needs across the care journey,”
said Alessio Amadasi, Vice President, Medical Affairs EU & International, Chiesi Global Rare Diseases.
“That kind of understanding informs better care today while helping to shape the future of rare disease management.”
Beyond the data presented at this year's Congress, Chiesi Global Rare Diseases recognizes that advancing care for people living with lysosomal storage disorders requires continued learning, collaboration, and investment in research. While the findings shared at SSIEM contribute to a growing body of knowledge, important questions remain across diagnosis, disease understanding, and long-term care. That is why Chiesi develops initiatives such as
Find For Rare,
now in its second edition, an independently assessed, expert-led research grant initiative designed to enable innovative research in lysosomal storage disorders. By providing funding opportunities through an independent selection process, Find For Rare helps advance knowledge in areas that matter most to the rare disease community and reflects Chiesi's long-term commitment to supporting progress for people living with these conditions today and for those who come next.
About Fabry Disease
Fabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the
GLA
gene, which leads to a deficiency of the enzyme alpha-galactosidase A. This deficiency results in an accumulation of a fatty substance called globotriaosylceramide (GL-3) in the body’s cells, affecting the heart, kidneys, skin, nervous system, and other organs. Fabry disease can cause a range of serious signs and symptoms, including fatigue, chronic pain, gastrointestinal issues, decreased ability to sweat, progressive kidney failure, heart complications, and increased risk of stroke.
The condition affects both males and females and can present from childhood through adulthood, often with delayed diagnosis or misdiagnosis. While Fabry disease is rare, early detection and access to appropriate treatment — such as enzyme replacement therapy or pharmacological chaperone therapy — are critical in managing symptoms and slowing disease progression.
About Alpha-mannosidosis
Alpha-mannosidosis is an ultra-rare, inherited lysosomal storage disorder caused by mutations in the MAN2B1 gene, which results in a deficiency of the enzyme alpha-mannosidase. This deficiency leads to the accumulation of oligosaccharides, within the body’s cells, causing progressive damage to multiple organs and tissues. Alpha-mannosidosis can affect the musculoskeletal system, hearing, immune system, nervous system, and other organs, and is associated with a wide range of signs and symptoms, including skeletal abnormalities, impaired mobility, hearing loss, cognitive impairment, immune dysfunction, and behavioral or mental health challenges.
The condition affects both children and adults and may present with few or mild symptoms early in life, progressing over time as oligosaccharides accumulate. While alpha-mannosidosis is rare, timely diagnosis and appropriate disease management are important to help address symptoms and support long-term outcomes for affected individuals.
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 center 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 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.
Chiesi Global Rare Diseases Media Contact
Sky Striar
LifeSci Communications
Email:
sstriar@lifescicomms.com
UK-RD-2600099 | August 2026