-- Chiesi's abstract presentations will focus on clinical insights and patient-reported outcomes inFabry 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,1 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.
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.2 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.3
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.2
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.4 This deficiency leads to the accumulation of oligosaccharides, within the body's cells, causing progressive damage to multiple organs and tissues.5 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.4
The condition affects both children and adults and may present with few or mild symptoms early in life, progressing over time as oligosaccharides accumulate.4,5 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.4
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
References
1) Germain, D. P., & Linhart, A. (2024). Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease. Frontiers in genetics, 15, 1395287.
2) Mehta, A., & Hughes, D. A. (2024). Fabry disease. In M. P. Adam, S. Bick, G.M. Mirzaa, et al. (Eds.), GeneReviews. University of Washington, Seattle.
3) Cleveland Clinic. (2025, October 9). Fabry disease: Symptoms & causes.
4) Malm, D., & Nilssen, Ø. (2008). Alpha-mannosidosis. Orphanet journal of rare diseases, 3, 21.
5) Borgwardt, L., Stensland, H. M., Olsen, K. J., Wibrand, F., Klenow, H. B., Beck, M., Amraoui, Y., Arash, L., Fogh, J., Nilssen, Ø., Dali, C. I., & Lund, A. M. (2015). Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. Orphanet journal of rare diseases, 10, 70.
