In 2020, Chiesi launched Chiesi Global Rare Diseases, a business unit focused on supporting people living with rare diseases.

The Global Rare Diseases unit works in collaboration with the wider Chiesi Group to harness the full resources and capabilities of our global network. 

Our goal is to support as many people as possible living with rare diseases, so that they can lead the lives they want. We collaborate with the rare disease community to bring the voices of those affected to the fore.

At Chiesi, we conduct research in the areas of:

Fabry disease

Fabry disease is a rare genetic disorder causing fat accumulation and symptoms like pain, stomach issues, and temperature sensitivity, which can greatly impact daily living.[1] Fabry disease may be more common than thought due to under-diagnosis.

Alpha-Mannosidosis

Alpha-mannosidosis is an ultra-rare genetic disorder caused by enzyme deficiency, leading to immune problems, skeletal abnormalities, hearing loss, and intellectual disability.[2]

Leber's Hereditary Optic Neuropathy (LHON)

Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease affecting retinal cells, causing sequential vision loss.[3] The condition most commonly affects young men, with symptoms usually appearing in adolescence or their early twenties. The condition can also affect women but usually doesn’t appear until later in life.[4]

Nephropathic cystinosis 

Nephropathic cystinosis is a rare genetic disease causing cystine build-up and symptoms like excessive thirst/urination and growth issues.[5] 

Children with nephropathic cystinosis are at high risk of developing worsening kidney disease, which may eventually lead to kidney failure.[5]

Beta thalassaemia

Beta thalassaemia is a severe genetic blood disorder causing anaemia, bone deformities, and other issues due to low haemoglobin production.[6]

IE-CHI-2300043 October 2023

[1] MPS Society. Fabry disease. [online] Available at: https://www.mpssociety.org.uk/fabry-disease [Accessed November 2023]

[2] NORD (National Organization for Rare Disorders). (2018). Alpha-Mannosidosis. [online] Available at: https://rarediseases.org/rare-diseases/alpha-mannosidosis [Accessed November 2023]

[3] Fight for Sight. (2015). Leber Hereditary Optic Neuropathy [online] Available at: https://www.fightforsight.org.uk/about-the-eye/a-z-eye-conditions/leber-hereditary-optic-neuropathy [Accessed November 2023]

[4] LHON Society. At what age do symptoms begin? [online] Available at: https://www.lhonsociety.org/information/at-what-age-do-symptoms-begin [Accessed November 2023]

[5] National Kidney Foundation. (2017). Nephropathic Cystinosis. [online] Available at: https://www.kidney.org/atoz/content/nephropathic-cystinosis [Accessed November 2023]

[6] NHS (2019). Symptoms - Thalassaemia. [online] NHS. Available at: https://www.nhs.uk/conditions/Thalassaemia [Accessed November 2023]