Chiesi Global Rare Diseases Announces Presentations on Lysosomal Storage Diseases at the Society for the Study of Inborn Errors of Metabolism Annual Symposium

• Results from the clinical development programme developed with Protalix BioTherapeutics evaluating pegunigalsidase alfa (PRX-102) an investigational enzyme replacement therapy (ERT), support its potential as a treatment option for adult patients with Fabry disease.
• SPARKLE registry, Europe's first registry dedicated to collecting real-world evidence in patients with Alpha Mannosidosis, has enrolled more than 50 patients across Europe.
• Chiesi is sponsoring a satellite symposium, "What matters most? Improving care in LSDs," led by Maurizio Scarpa, M.D., Ph.D., Director of the Regional Reference Centre for Rare Diseases at Udine University Hospital, Italy.

FREIBURG, Germany, Sept. 2, 2022 /PRNewswire/ -- Chiesi Global Rare Diseases, a business unit of Chiesi Farmaceutici S.p.A., an international research focused healthcare Group (Chiesi Group), today announced multiple presentations focused on the research and treatment of lysosomal storage diseases (LSDs) at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium being held in Freiburg, Germany 30 August – 2 September, 2022.

The company's presentations include five abstracts with data from a robust clinical development programme evaluating pegunigalsidase alfa (PRX-102), an investigational enzyme replacement therapy (ERT) for the treatment of Fabry disease. The company is also presenting two abstracts dedicated to Alpha Mannosidosis, including updates from Europe's first patient registry for this ultra-rare disease. Finally, the company is sponsoring a satellite symposium, "What matters most? Improving care in LSDs," that is being led by Maurizio Scarpa, M.D., Ph.D., Director of the Regional Reference Centre for Rare Diseases at Udine University Hospital, Italy.

"The multidisciplinary approach and the doctor-patient dialogue play a crucial role in providing the most appropriate and personalised therapeutic solutions in LSDs," said Prof. Scarpa. "Patients with lysosomal storage diseases, even within the same diagnosis, are very heterogeneous and can live with completely different conditions from each other. This is why fostering constant communication between patient and doctor is one of the best ways to understand which symptoms are most impactful and burdensome for patients, or to implement a more holistic approach that includes the management of associated conditions, such as psychological well-being and impaired mobility. Only in this way we will be able to work with ever greater specificity in order to achieve more incisive results in terms of improving the quality of life and well-being of people with lysosomal storage diseases."

Today, some 350 million people are living with a rare disease. There are more than 7,000 known rare diseases¹, but only five percent currently have an approved treatment or an experimental therapy in development. Chiesi Global Rare Diseases was established in 2020 to bring innovative solutions to these patients and support to their caregivers. Drawing maximum synergy from the resources and capabilities of the Chiesi Group and its global network, the business unit develops innovative drugs with the patients' needs first.

The company's symposium at SSIEM 2022 is dedicated to the key role of the patient as a driving force for a personalised and multidisciplinary diagnostic, therapeutic and social approach in the treatment of lysosomal storage diseases. During this symposium, leading international opinion leaders including Dr. Uma Ramaswami, a paediatrician specialised in hereditary metabolic diseases at the Royal Free Hospital in London (UK), Dr. Nathalie Guffon, Head of Reference Centre for Inherited Metabolic Diseases at the Femme Mère Enfant Hospital in Lyon (France), and Dr. Patricio Ricardo da Terra Aguiar, a specialist in hereditary metabolic diseases at Lisbon North Hospital Center (Portugal), will review the importance of patient centricity and listening, how to choose the most appropriate therapy according to specific needs, and how to assess the effects of treatment and adherence to therapy. The event is focused on Fabry disease and Alpha Mannosidosis, the latter being an ultra-rare disease with still limited knowledge available in the scientific literature so far. Chiesi Global Rare Diseases is working together with the scientific community to increase awareness and knowledge of this ultra-rare condition.

"We are constantly working to promote research and development of new products for rare and ultra-rare diseases because we firmly believe that by helping patients and their families, we can play our part in generating a positive impact on society as a whole," said Giacomo Chiesi, Head of Chiesi Global Rare Diseases. "Being able to promote discussion within the scientific community on the importance of the patient centricity first and foremost as a person, makes us proud to be here today. In our DNA we feel a strong desire to be able to bring answers to those needs that are still unmet, as in the case of Fabry disease, and at the same time to cooperate with physician and patient advocacy groups in building together the story of ultra-rare diseases, such as Alpha Mannosidosis, which is still largely unknown."

"Moreover, as a B-Corp certified company, Chiesi is strongly committed to making a tangible contribution to the United Nations Sustainable Development Goals (SDGs), and more specifically in the field of rare diseases, to the goal of achieving health for all at all ages," added Giacomo Chiesi. "Chiesi Global Rare Diseases wants to play its part in achieving this goal by committing on a daily basis to providing patients with safe and effective solutions that improve their quality of life and by making these treatments accessible to those in difficult circumstances or who cannot easily access treatment."

Chiesi is presenting results from the  Phase III clinical development programme sponsored by Protalix Ltd., Chiesi's collaboration partner, evaluating PRX-102, including data from the BRIGHT and BALANCE studies. The results of the Phase III BRIGHT² study indicate that treatment with 2 mg/kg of PRX-102 administered by intravenous infusion every four weeks for 52 weeks was well tolerated and that Fabry disease remained stable throughout the duration of the study. The pivotal Phase III BALANCE³ study, which is an active-control, randomised, double-blind, 24-month study in adult Fabry disease patients with renal function impairment, evaluated the safety and efficacy of 1 mg/kg of PRX-102 administered every two weeks versus agalsidase beta at the same dosing schedule. The study enrolled 78 patients previously treated with agalsidase beta for at least one year and met the predefined criteria of non-inferiority for the primary endpoint of renal function.

Velmanase Alfa, a drug authorised by the EMA in 2018, is the first drug therapy for the treatment of Alpha Mannosidosis, an ultra-rare and severely disabling genetic disease. It is an ERT that aims to replace or supplement natural alpha-mannosidase. Chiesi and the scientific community are working together to build a diagnostic and therapeutic pathway that meets the needs of patients:

The company is presenting for the first time at SSIEM 2022 preliminary data from the SPARKLE registry, the first European registry dedicated to collecting real-world evidence in patients with Alpha Mannosidosis. The registry was developed to gather insights into the natural history of the disease regardless of treatment. The registry has been active since December 2019 and has so far enrolled more than 50 patients in different European countries. The goal is to reach 100 patients in order to be able to build more knowledge on the natural history of the disease, as well as on the impact of long-term enzyme replacement therapy with velmanase alfa.

Furthermore, the company is presenting long-term efficacy data of velmanase alfa for the treatment of alpha-mannosidosis, from the French Etoile Alpha registry. This is the longest clinical experience to date, with data from patients who received velmanase alfa treatment up to a maximum of 9.5 years. The study shows not only significant improvements in biochemical parameters and lung function but also improvements in motor function.

Fabry disease is an X-linked inherited disease that results from deficient activity of the lysosomal α‑Galactosidase‑A enzyme resulting in progressive accumulation of abnormal deposits of a fatty substance called globotriaosylceramide (Gb3) in blood vessel walls throughout a person's body. Fabry disease occurs in one person per 40,000 to 60,000. Fabry patients inherit a deficiency of the α‑Galactosidase‑A enzyme, which is normally responsible for the breakdown of Gb3. The abnormal storage of Gb3 increases with time and, accordingly, Gb3 accumulates, primarily in the blood and in the blood vessel walls. The ultimate consequences of Gb3 deposition range from episodes of pain and impaired peripheral sensation to end-organ failure – particularly of the kidneys, but also of the heart and the cerebrovascular system.

Alpha-mannosidosis is a lysosomal storage disease that belongs more specifically to the subgroup of oligosaccharidoses. It is a hereditary disease, with autosomal recessive transmission, due to a mutation in the gene MAN2B1. This specific genetic defect causes deficiency of the lysosomal alpha-mannosidase enzyme, resulting in harmful and progressive build-up of oligosaccharides (sugars) in cells throughout the body. The manifestations of alpha-mannosidosis vary from patient to patient, but the disease is essentially characterised by immunodeficiency, skeletal abnormalities, facial dysmorphisms, sensorineural deafness and gradual deficits in mental and speech functions. Related motor disorders include muscle weakness, osteo-articular abnormalities and ataxia. Additional symptoms include hydrocephalus, hepatosplenomegaly and eye, kidney and heart problems. Alpha-Mannosidosis affects about one in every 500,000 live births.

Pegunigalsidase alfa (PRX-102) is an investigational, plant cell culture-expressed, and chemically modified stabilized version of the recombinant alpha-galactosidase A enzyme. Protein sub-units are covalently bound via chemical cross-linking using short PEG moieties, resulting in a molecule with unique pharmacokinetic parameters. In clinical studies, PRX-102 has been observed to have a circulatory half-life of approximately 80 hours. Protalix Ltd., Chiesi's collaboration partner, designed PRX-102 to potentially address the continued unmet clinical need in Fabry patients.

The active ingredient velmanase alfa is part of a group of drugs called enzyme replacement therapies and is the first drug therapy for the treatment of alpha-mannosidosis, an ultra-rare and severely disabling genetic disease caused by the absence or malfunction of alpha-mannosidase, an enzyme involved in the cellular breakdown of glycoproteins. Velmanase alfa is a recombinant form of the human alpha-mannosidase enzyme. Velmanase alfa is an investigational drug candidate in the United States. The effectiveness and safety of Velmanase Alfa have not been reviewed or approved by the FDA.

Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focused on research and development of treatments for rare and ultra-rare disorders. The Global Rare Diseases unit works in collaboration with Chiesi Group to harness the full resources and capabilities of our global network to bring innovative new treatment options to people living with rare diseases, many of whom have limited or no treatments available. The unit is also a dedicated partner with global leaders in patient advocacy, research and patient care. For more information visit www.chiesirarediseases.com.

Chiesi is an international, research-focused biopharmaceuticals 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, and France, Chiesi's commitment to create shared value for society as a whole is legally binding and central to company-wide decision-making. Since 2019, Chiesi is the world's largest biopharmaceutical group to be certified B Corp, meaning that its sustainability efforts are measured and assessed by the most ambitious global standards. The company aims at becoming net-zero by 2035.

With over 85 years of experience, Chiesi is headquartered in Parma (Italy), operates in 30 countries, and counts more than 6,000 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.

For further information please visit www.chiesi.com

¹ Osservatoriomalattierare.it
² https://protalixbiotherapeutics.gcs-web.com/news-releases/news-release-details/protalix-biotherapeutics-and-chiesi-global-rare-diseases-8
³ https://www.chiesi.com/en/protalix-biotherapeutics-and-chiesi-global-rare-diseases-announce-topline-results-from-the-24-month-phase-iii-balance-clinical-trial-of-prx-102-for-the-treatment-of-fabry-disease/

Chiesi Global Rare Diseases Media Contact
Jenna Urban
Berry & Company Public Relations
+1-212-253-8881
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SOURCE Chiesi Global Rare Diseases