Chiesi在SSIEM 2026展示Fabry病和α-甘露糖苷贮积症研究摘要，未披露新的审批或商业订单

-- 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.
Details of Chiesi-led presentations are as follows:
Fabry disease
Title:
The reality of untreated Fabry disease: patient-reported challenges from a 238-participant cross-sectional survey
Format
: Poster Presentation (Poster #87)
Presenter:
Dawn Laney, M.S., Emory University School of Medicine
Date/Time:
Wednesday, August 26, 5:30-7:30 pm EEST
Title:
Long-term safety and efficacy of pegunigalsidase alfa in treatment-naive Fabry disease patients in F60/BRILLIANCE trial
Format
: Poster Presentation (Poster #539)
Presenter:
Ozlem Goker-Alpan​, M.D., Lysosomal and Rare Disorders Research and Treatment Center
Date/Time:
Wednesday, August 26, 5:30-7:30 pm EEST
Title:
Long-term safety and efficacy of pegunigalsidase alfa in patients who switched from agalsidase alfa
Format
: Poster Presentation (#739)
Presenter:
Robert Hopkin, M.D., Cincinnati Children's Hospital Medical Center
Date/Time:
Wednesday, August 26, 5:30-7:30 pm EEST
Title:
Tolerability of 1-Hour Infusions of Pegunigalsidase Alfa in Fabry Disease: Data from the F60/BRILLIANCE Trial.
Format
: Poster Presentation (#529)
Presenter:
Robert Hopkin, M.D., Cincinnati Children's Hospital Medical Center
Date/Time:
Wednesday, August 26, 5:30-7:30 pm EEST
Alpha-mannosidosis
Title:
Detection of alpha-mannosidosis: a phenotypic similarity approach powered by natural language processing
Format
: Poster Presentation (#284)
Presenter:
Nathalie Guffon, M.D., Femme Mère Enfant Hospital
Date/Time:
Wednesday, August 26, 5:30-7:30 pm EEST
Title:
Clinical impact of the MAN2B1 c.2248C>T variant in patients with alpha-mannosidosis: genotype–phenotype insights from the SPARKLE registry
Format
: Poster Presentation (#314)
Presenter:
Nicole Muschol, M.D., University Medical Center Hamburg-Eppendorf
Date/Time:
Wednesday, August 26, 5:30-7:30 pm EEST
Details of independent presentations supported by Chiesi are as follows:
Fabry disease
Title:
Pegunigalsidase alfa improves exercise tolerance and skeletal muscle bioenergetics in a Fabry disease mouse model
Format:
Poster Presentation
Presenter:
Jessica Gambardella, Ph.D. Federico II University of Naples, Naples, Italy
Title:
Real-world experience with the new four-week dosing regimen of pegunigalsidase alfa in Fabry disease: a multicenter study
Format:
Poster Presentation
Presenter:
Alicia Ugena, MD, Hospital Universitario de Cuenca, Cuenca, Spain
Alpha-mannosidosis
Title:
Integrating α-mannosidosis into the differential diagnostic algorithm for suspected MPS: A 30-month update
Format
: Poster Presentation
Presenter:
Berthold Streubel, M.D., Medical University of Vienna
Title:
Alpha-Mannosidosis: Biomarker-based Treatment Monitoring
Format
: Poster Presentation
Presenter:
Dominik Dörfel, University Medical Center Hamburg-Eppendorf
Title:
Secondary Mitochondrial Dysfunction in Alpha-Mannosidosis: Implications for Disease Pathophysiology and Therapeutic Targeting
Format
: Oral Platform Presentation
Presenter:
Mollie Dewsbury, Liverpool John Moores University
Title:
Integrated Clinical, Biochemical, and Genetic Characterization of α-Mannosidosis in a Spanish Cohort: The α-REVEAL Study
Format
: Oral Platform Presentation
Presenter:
Belén Pérez, Ph.D., Autonomous University of Madrid (Center for the Diagnosis of Molecular Diseases)
Title:
Newborn screening for alpha-mannosidosis: quantitative assessment of a novel biomarker in dried blood spots
Format
: Oral Platform Presentation
Presenter:
Dominik Dörfel, University Medical Center Hamburg-Eppendorf
Important Safety Information and Indication
Elfabrio
®
(pegunigalsidase alfa-iwxj) is a prescription infusion medicine used to treat adults with confirmed Fabry disease.
Important Safety Information
What is the most important information I should know about Elfabrio?
Severe allergic reactions (hypersensitivity reactions), including anaphylaxis, may occur during and after Elfabrio treatment. If severe allergic reactions or anaphylaxis occurs during treatment, your healthcare provider will immediately stop the infusion and provide appropriate medical care. If these reactions should occur after treatment, seek immediate medical care.
What should I know about Elfabrio infusions?
Your healthcare provider may give you other medications prior to your Elfabrio infusions to help manage allergic reactions and infusion-related side effects. They will explain how to recognize the signs and symptoms of these allergic reactions and infusion-related side effects. If these signs and symptoms occur, it’s important for you to seek immediate medical care. If the reaction is mild to moderate, your healthcare provider may choose to slow the infusion rate or withhold the dose.
In clinical trials, 41 patients (29%) experienced an infusion-related side effect. The most common signs and symptoms of an infusion-related reaction with Elfabrio were hypersensitivity, nausea, chills, itchy skin, rash, chest pain, dizziness, vomiting, feelings of weakness, pain, sneezing, shortness of breath, nasal congestion, throat irritation, abdominal pain, skin redness, diarrhea, burning sensation, nerve pain, headache, tingling or numbness, shaking movements, agitation, increased body temperature, flushing, slow heart rate, muscle pain, high blood pressure, and low blood pressure.
Your healthcare provider will do blood and urine tests to check your kidney function during treatment with Elfabrio.
The most common side effects of Elfabrio include infusion-related side effects, common cold, headache, diarrhea, fatigue, nausea, back pain, pain in the limbs, and sinus infection.
Please see
Full Prescribing Information
for Elfabrio.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit
www.fda.gov/medwatch
or call 1-800-FDA-1088.
Important Safety Information and Indication
Lamzede
®
(velmanase alfa-tycv) is intended for the treatment of non-central nervous system symptoms of alpha-mannosidosis in adult and pediatric patients.
Important Safety Information
What is the most important information I should know about Lamzede?
Severe allergic reactions (hypersensitivity reactions) including anaphylaxis, may occur during and after Lamzede treatment. If severe allergic reactions or anaphylaxis occur during treatment, your healthcare provider will immediately stop the infusion and provide appropriate medical care. If these reactions should occur after treatment, seek immediate medical care.
What should I know about infusions?
Your healthcare provider may give you other medications prior to your next infusion to help manage allergic reactions and infusion-related side effects. They will explain how to recognize the signs and symptoms of these allergic reactions and infusion-related side effects. If these signs and symptoms occur, it’s important for you to seek immediate medical care.
What are the common signs and symptoms of an allergic reaction or infusion-related side effects with Lamzede?
In clinical trials, some patients experienced signs and symptoms of an allergic reaction, which included bluish skin discoloration, low blood pressure, vomiting, hives, skin redness, facial swelling, fever, and involuntary movements.
In clinical trials, when patients experienced an infusion-related side effect, the most common signs were fever, chills, skin redness, vomiting, cough, itching, rash, and pink eye.
Are there certain people who should or should not take Lamzede?
Lamzede may cause harm to your unborn baby. For females who are able to become pregnant, your healthcare provider should do a pregnancy test before you start treatment with Lamzede. Tell your healthcare provider right away if you become pregnant or think you may be pregnant. You should use effective birth control during treatment with Lamzede and for at least 14 days after the last dose.
What are the most common side effects of Lamzede?
Lamzede can cause side effects including severe allergic reactions and anaphylaxis, common cold, fever, headache, and joint pain or stiffness.
Please see
Full Prescribing Information
for Lamzede.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit
www.fda.gov/medwatch
or call 1-800-FDA-1088.
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.
For more information visit
www.chiesi.com
.
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.
For more information visit
www.chiesirarediseases.com
.
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Chiesi Global Rare Diseases Media Contact
Sky Striar
LifeSci Communications
Email:
sstriar@lifescicomms.com
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