Our areas of Focus

Patients are at the beginning and end of our journey—that’s why we apply so much focus to science and innovation. We engage in a wide dialogue beyond treatment to understand the needs of individuals, their families, and the community so we can imbed your voice in our development process. We promise to keep researching, enhancing, and advancing new products, whether internally or through partnerships, so people with rare diseases can find the care they need.

Inborn Errors of Metabolism

Alpha-mannosidosis is an ultra-rare genetic disorder characterized by a deficiency of the enzyme alpha mannosidase. This enzyme deficiency results in the body’s cells being unable to properly break down certain groups of complex sugars. The buildup of sugars can affect many parts of the body’s organs and systems, like the central nervous system. Effects of the disease vary significantly, and symptoms can include recurrent chest and ear infections, hearing loss, distinctive facial features, muscle weakness, skeletal and joint abnormalities, or cognitive abnormalities. Alpha-mannosidosis affects approximately 1 in 1,000,000 babies born worldwide.

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Fabry disease is a rare genetic disease caused by a deficiency of an enzyme called alpha-galactosidase A and a buildup of certain lipids in cells. It can affect many parts of the body, including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system. Early signs of the disease may start in childhood, and it can be a progressive, lifelong condition. Fabry disease affects men and women. Studies estimate that about 1 in every 40,000-60,000 men worldwide are affected by the condition.

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Cystinosis is an ultra-rare, progressive, lifelong multisystem disease caused by mutations in the CTNS gene that lead to the accumulation of cystine in the body's lysosomal cells. There are several types of cystinosis. Infantile nephropathic cystinosis, the most severe form, affects approximately 95% of patients with cystinosis. Neonates with nephropathic cystinosis are clinically asymptomatic at birth; symptoms gradually develop during the first months of life and present with signs of renal Fanconi syndrome. A variety of systemic complications can occur later in life in other organs and continue to progress even after kidney transplantation. Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide.


Rare Hematology

Thalassemia is an inherited blood disorder that affects the body’s ability to produce hemoglobin and red blood cells. The symptoms of thalassemia can vary depending on the type of inherited mutation. Transfusion-dependent thalassemia is the most severe form, in which there is complete lack of beta protein in the hemoglobin, causing life-threatening anemia that requires regular blood transfusions. Thalassemia can lead to many health problems, such as enlarged spleen, infections, bone deformities in the face and skull, and too much iron in the blood from transfusion. It’s estimated that nearly 1 in 100,000 individuals are diagnosed with symptomatic cases of thalassemia.

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Sickle Cell Disease is an inherited blood disease that causes normally rounds red blood cells to have an elongated “sickle” shape. Sickled red blood cells are harmful to the body in two ways: cells stick together and may block circulation in micro-vessels in organs especially in high perfusion organs; they are more fragile and have a shorter lifespan than healthy cells. This hemolysis leads to anemia and narrowing or increased pressure in the blood vessels. As a result, this can cause vaso-occlusive pain crises and other serious problems such as infection, damage to organs, acute chest syndrome, and stroke. Patients often require blood transfusions to manage disease complications, which leads to iron buildup in the body (iron overload). The incidence of Sickle Cell Disease is estimated to be between 300,000-400,000 patients globally each year.

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Rare Immunodeficiencies

Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). Absence of the enzyme ADA allows accumulation of toxic metabolites, leaving patients with no immunity against infections, failure to thrive, and metabolic abnormalities. This makes them more susceptible to repeated infections that can become serious or life-threatening. Without newborn screening, diagnosis of SCID usually occurs within the first 6 months of life. Without treatment, infants with this disorder usually do not survive past the age of 2. ADA-SCID is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns.

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Rare Ophthalmology

Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. It can start with painless clouding or blurring in one or both eyes and then worsen with a loss of sharpness and loss of color vision. LHON affects the central vision needed for detailed tasks such as reading, driving, and recognizing faces. Patients with LHON might become legally blind. It can affect about 1 in 15,000 to 50,000 people worldwide.

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Legend

Pre Clinical

Early Clinical

Late Clinical

Approved

DISEASE

DEVELOPMENT STAGE

PRECLINICAL

EARLY CLINICAL

LATE CLINICAL

APPROVED

PARTNER

Leber's Hereditary
Optic Neuropathy

Nephropathic
Cystinosis

Alpha-Mannosidosis

Thalassemia

**

Sickle Cell Disease or Other Anemias

*

Fabry Disease

ADA - SCID

(Various)

* Brazil, Canada, and Turkey

** Worldwide

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