Rare | Chiesi Farmaceutici S.p.A.
Chiesi Global Rare Diseases
In February 2020, Chiesi founded Chiesi Global Rare Diseases, the Chiesi Farmaceutici Group’s business unit dedicated to developing therapies and solutions for people living with rare or ultrarare diseases. Based in Boston, Massachusetts, Chiesi Global Rare Diseases was established with the goal of addressing the still unmet needs of patients with rare conditions, which are often complex and difficult to diagnose.
The unit focuses particularly on areas such as lysosomal diseases, endometabolic disorders, ophthalmology, dermatology, hematology, and immunology. Chiesi Global Rare Diseases goes beyond drug development by promoting a patient-centered approach, working closely with scientific communities, physicians, and patient associations to improve diagnosis, access to care, and overall quality of life.
“Chiesi has a long history of success in discovering, developing and commercializing innovative therapies to address the unmet needs of people living with rare diseases. With the Chiesi Global Rare Diseases Business Unit, we are taking this to an entirely new level — rededicating and strengthening our efforts to support individuals and families living with a rare disease around the world.”
— Giacomo Chiesi, Executive Vice President, Global Rare Diseases
“Let the voice of patients guide what we do: listening to them is the first step toward developing solutions that truly meet their needs.”
— Giacomo Chiesi, Executive Vice President, Global Rare Diseases
“More than 400 million people around the world live with a rare disease, and only 5% of these conditions have an available therapeutic solution. This is why we are committed to listening to patients’ needs and transforming them into solutions that make a real impact.”
— Giacomo Chiesi, Executive Vice President, Global Rare Diseases
The Chiesi Group commercializes medicines for the treatment of lysosomal storage disorders, such as Fabry disease, alphamannosidosis and nephropathic cystinosis; endometabolic diseases including homozygous familial hypercholesterolemia, lipodystrophy and acromegaly; as well as solutions for thalassemia, sickle cell disease, ADASCID, Leber’s Hereditary Optic Neuropathy (LHON), and epidermolysis bullosa.
The company is also advancing technologies aimed at overcoming the blood–brain barrier in certain lysosomal storage disorders and developing gene editing approaches for primary hyperoxaluria type 1 (PH1).
In recent years, Chiesi Global Rare Diseases has experienced significant growth, rapidly strengthening its position through strategic acquisitions and targeted partnerships. A key milestone was the acquisition of Amryt Pharma in 2023, which greatly expanded the portfolio and global presence in rare diseases.
In parallel, the organization has built an innovation-driven partnership ecosystem, including collaborations with Aliada Therapeutics and Key2Brain—both focused on developing technologies capable of crossing the blood–brain barrier to address unmet needs in central nervous system disorders. Additional partnerships, such as those with Arbor Biotechnologies, further demonstrate an increasingly open and collaborative model in the field of gene editing.
This approach has enabled Chiesi Global Rare Diseases to build, in just a few years, a solid and technologically advanced pipeline aimed at addressing unmet medical needs in rare and ultrarare diseases.