Chiesi Global Rare Diseases Reinforces Long-Term Commitment to the Rare Disease Community with Multiple Abstract Presentations at the 22nd Annual WORLDSymposium™
-- Chiesi’s abstract presentations will focus on clinical insights and patient-reported outcomes in Fabry disease and alpha-mannosidosis --
-- These scientific contributions in lysosomal storage disorders (LSDs) underscore a sustained investment in data generation, patient-centered research, and authentic rare disease representation --
BOSTON, Feb. 05, 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 22nd Annual WORLDSymposium™, held February 2-6, 2026, in San Diego, California.
The company is proud to support 16 scientific abstracts across Fabry disease and alpha-mannosidosis, including 11 Chiesi‑led presentations and 5 Chiesi-supported independent studies. These abstracts reinforce the Company’s long-term commitment to people with lysosomal storage disorders (LSDs) and the rare disease community.
The presentations detail clinical insights, including long-term data up to 10 years from the Phase 3 extension study (BRILLIANCE) for Fabry disease, and patient and caregiver-reported outcomes, reflecting Chiesi’s belief that meaningful progress in rare diseases must integrate robust data with the lived experiences of patients and caregivers.
“Innovation requires sustained scientific rigor, responsible research and development, and continuity of commitment. That is why we are incredibly proud to participate in, and share our findings at, the annual WORLDSymposium, a meeting with global collaboration dedicated to meaningful advancements for the LSD community,” said Rachele Berria, MD, PhD, Senior Vice President, Head of Global Medical Affairs. “Our programs, partnerships, products, and pipeline represent comprehensive care that spans the entire patient journey. From advanced diagnosis all the way through to long-term quality-of-life outcomes, we believe patient perspectives should actively guide every step of the development process. By deeply integrating robust clinical insights with the vital voices of patients and caregivers, we aim to advance truly transformative solutions and models of care that aim to significantly improve the lives of those with rare diseases and their families.”
These 16 abstracts, including one late-breaker and two platform presentations, span a broad range of topics and reflect the depth of Chiesi’s research and engagement. Presentations include new clinical and real-world data on Fabry disease, as well as an expanded understanding of alpha-mannosidosis, including insights into diagnosis and caregiver impact and quality-of-life outcomes across the patient journey. Together, these presentations reinforce Chiesi’s long-standing commitment to people living with rare diseases, supported by a patient-focused communications approach used across Chiesi Global Rare Diseases’ work. This approach will also be reflected in Chiesi’s presence at the WORLDSymposium, including in the presentation “True Faces of Rare: Authenticity Over Aesthetics – Shaping a New Visual Language for Fabry and Other Rare Disease Communications,” which formalizes the Company’s use of real patient imagery and lived experience in rare disease communications.
“In rare conditions, accuracy matters not only in science, but in how these diseases are visually represented,” said Stuart Siedman, Vice President, Patient Advocacy, Chiesi Global Rare Diseases. “With True Faces of Rare, we are affirming a simple but powerful principle: patients deserve to be seen as they truly are. Authenticity is not an aesthetic choice; it is a reflection of respect, trust, and responsibility toward the communities we serve.”
The WORLDSymposium represents an important moment of scientific exchange for the LSD community, and a checkpoint in Chiesi’s long-term journey across LSDs, with continued investment in data, collaboration, and patient-centered progress ahead.
Details of Chiesi-led presentations are as follows:
Fabry disease
Title: Long-term safety and efficacy of pegunigalsidase alfa in patients with Fabry disease: results from the Phase 3 BRILLIANCE extension study
Format: Poster Presentation
Presenter: John A. Bernat, M.D., Ph.D., University of Iowa Health Care
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: Evaluating the relationship between anti-drug antibodies and clinical efficacy in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review
Format: Poster Presentation
Presenter: Derralynn Hughes, M.D., University College London
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: Real-world utilization and adherence patterns of enzyme replacement therapy in Fabry disease: survey results from 238 patients in the USA and Canada
Format: Poster Presentation
Presenter: Lisa Berry, LGC, Cincinnati Children's Hospital Medical Center
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: Exploring the distinct challenges and unmet needs of female patients with Fabry disease: findings from a cross-sectional survey of 238 participants
Format: Poster Presentation
Presenter: Dawn Laney, M.S., Emory University School of Medicine
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: Comparison of left ventricular mass index in patients treated with pegunigalsidase every 4 or 2 weeks versus other Fabry disease treatment: an indirect treatment comparison
Format: Poster Presentation
Presenter: Eric Wallace, M.D., University of Alabama at Birmingham Fabry Disease Clinic
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: True Faces of Rare: Authenticity Over Aesthetics – Shaping a New Visual Language for Fabry and other Rare Disease Communications
Format: Poster Presentation
Presenter: Prof. Dr Tom Kenny BM, MSc-PH, MBA, FFPH, Chiesi Limited
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: Evaluating the relationship between anti-drug antibodies and infusion-related reactions/safety outcomes in patients with Fabry disease receiving enzyme replacement therapy (ERT): a systematic literature review
Format: Poster Presentation
Presenter: Patrício Aguiar, M.D., Ph.D., Lisbon University
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Alpha-mannosidosis
Title: Sparkle Registry Genotype/Phenotype: Clinical impact of the MAN2B1 c.2248C>T variant in patients with alpha-mannosidosis: genotype–phenotype insights from the SPARKLE registry
Format: Poster Presentation
Presenter: Nathalie Guffon, M.D., Femme Mère Enfant Hospital in Lyon
Date/Time: Tuesday, February 3, 3:30-5:30 pm PST
Title: DeltaQuest QoL: Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: Measuring what matters in alpha-mannosidosis
Format: Poster Presentation
Presenter: Carolyn Schwartz, Sc.D, DeltaQuest Foundation, Inc.
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: AM Vignette: Quantifying the burden of Alpha Mannosidosis through vignette-derived utilities
Format: Poster Presentation
Presenter: Karolina Stepien, M.D., Ph.D., Salford Royal Hospital
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Title: AM Caregiver Interviews: Navigating the real-world challenges of alpha-mannosidosis patients and caregivers: understanding their journeys during, and after, diagnosis
Format: Poster Presentation
Presenter: Sonia Sgrò, Chiesi Global Rare Diseases
Date/Time: Thursday, February 5, 3:30-5:30 pm PST
Details of independent presentations supported by Chiesi are as follows:
Fabry Disease
Title: Methods for detecting cross-reactivity of anti-α-galactosidase A IgG antibodies induced by alternative enzyme replacement therapy with pegunigalsidase alfa in the serum of Fabry disease patients
Format: Oral Presentation
Presenter: Saida Ortolano, Ph.D. Galicia South Health Research Institute at Álvaro Cunqueiro Hospital
Date/Time: Wednesday, February 4, 3:30-5:30 pm PST
Title: Entry of Pegunigalsidase Alfa in Cardiomyocytes and Impact on Diastolic Dysfunction in a Mouse Model of Fabry Disease
Format: Poster Presentation
Presenter: Jessica Gambardella, Ph.D. Federico II University of Naples, Naples, Italy
Date/Time: Tuesday, February 3, 3:30-5:30 pm PST
Alpha-mannosidosis
Title: AM Differential diagnosis algorithm: Integrating α-mannosidosis into the differential diagnostic algorithm for suspected MPS: A 24-month update
Format: Poster Presentation
Presenter: Petra Oliva, Ph.D., ARCHIMEDlife International Medical Laboratories
Date/Time: Tuesday, February 3, 3:30-5:30 pm PST
Title: Secondary Mitochondrial Dysfunction in AM: Evidence of secondary mitochondrial dysfunction in Alpha Mannosidosis
Format: Oral Presentation
Presenter: Karolina Stepien, M.D., Ph.D., Salford Royal Hospital
Date/Time: Friday, February 6, 12:30 pm PST
Title: Quantification of specific urinary oligosaccharide biomarkers for diagnosis and treatment monitoring of alpha-mannosidosis
Format: Poster
Presenter: Simona Murko, Ph.D.
Date/Time: Tuesday, February 3, 3:30-5:30 pm PST
In addition, a commercial symposium will be held on Tuesday, February 3, from 5:45-6:45 PST, titled “Closing the Loop: From Clinical Management to Patient Experience with Elfabrio® (pegunigalsidase alfa-iwxj).” This session will bring together clinical experts and patients to explore the full Fabry disease journey, integrating clinical considerations for treatment initiation and management with real-world patient experiences with Elfabrio®.
The Company will also host a medical symposium on Wednesday, February 4, from 5:45-6:45 pm PST, titled “Rational Design Meets Real-World Relevance: Pegunigalsidase Alfa in the Treatment of Fabry Disease.” The session will explore the rationale for PEGylation in ERTs, the design of Elfabrio®, mechanisms of cell entry and uptake, the role of PEG-specific ADAs, implications for immunogenicity and tolerability, and considerations for long-term clinical integration.
Important Safety Information
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.
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 chaperones 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 musculo-skeletal 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.
Follow @ChiesiGlobalRareDiseases on LinkedIn, Facebook, Instagram, X and YouTube.
Chiesi Global Rare Diseases Media Contact
Sky Striar
LifeSci Communications
Email: sstriar@lifescicomms.com
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