Announcing: Chiesi Farmaceutici S.p.A. has acquired Amryt Pharma. View the press release to learn more

When a disease is rare, listening shouldn’t be. That is why we believe working collaboratively and with transparency unlocks our potential to do more.

Looking out for You

That’s why we partner with a range of international and regional rare disease advocacy groups to learn and co-develop programs to empower patients and caregivers. Find resources, advocates, and allies to help you on your journey.


We encourage patient organizations to visit our sponsorship portal for more information. Our goal is to provide compliant support to organizations and connect them with resources for the benefit of the rare disease community.

Sponsorship Portal

Our Focus


As the science evolves, our focus is on finding therapies for the following key rare disease areas:
Rare Dermatology
Epidermolysis Bullosa (EB)
Rare Endo-Metabolic
Acromegaly
HoFH
Generalized Lipodystrophy
Rare Inborn Errors of Metabolism
Alpha-Mannosidosis
Fabry Disease
Nephropathic Cystinosis
Rare Hematology
Thalassemia
Sickle Cell Disease
Rare Immunodeficiency
ADA-SCID
Rare Ophthalmology
LHON
Epidermolysis Bullosa

Living with Epidermolysis Bullosa (EB) means living each day with serious wounds that must be protected and encouraged to heal. And for patients and families living with EB, it means limiting how they live in order to minimize the risk of new wounds. It’s a challenging disease for both patients and caregivers.

Learn More About EB

Learn More About EB
Acromegaly

Acromegaly can affect your body in many ways. You may feel tired, sweat a lot, or have changes to your hands and jaw. Acromegaly can also affect your heart, eyes, and even your mental health. These effects can change over time, even if you have had surgery or are taking medicine to control your Acromegaly.

Learn More About Acromegaly
HoFH

Homozygous Familial Hypercholesterolaemia (HoFH) is an uncommon condition inherited from both parents that leads to high levels of cholesterol in your blood. That’s because the liver of someone with HoFH has trouble removing unused cholesterol from the blood. It can take a while to diagnose HoFH because it is uncommon—even among those with high cholesterol.

Learn More about HoFH
Generalized Lipodystrophy

Generalized Lipodystrophy is a rare disease, which means that only a small number of people are affected by it. For this reason, it can be difficult to diagnose. Generalized Lipodystrophy is one type of lipodystrophy. There are other types of lipodystrophy, and each type has its own set of signs and symptoms.

Learn More About Generalized Lipodystrophy

Learn More About Generalized Lipodystrophy
Alpha-Mannosidosis

Alpha-Mannosidosis is an ultra-rare, inherited condition known as a lysosomal storage disorder that causes a range of symptoms. It occurs when the body is unable to make an enzyme that breaks down certain glycoproteins, which are a type of sugar, in cells. This causes the sugars to build up in part of the cell called a lysosome, which can damage organs and tissues throughout the body.

Learn More About Alpha-mannosidosis
Fabry Disease

Fabry Disease is a rare, progressive, genetic condition 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.

Learn More About Fabry Disease

Learn More About Fabry Disease
Nephropathic Cystinosis

Nephropathic Cystinosis is an extremely rare genetic condition caused by a mutation in the CTNS gene that affects fewer than two people in every million. There are three types of cystinosis, which are classified according to the age of presentation and how severely the kidneys are affected. Infantile Nephropathic Cystinosis is the most common and severe form of the disease, accounting for ~95 % of cases.1,2

1. Levtchenko E, Servais A, Hulton SA, et al. Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients. Clin Kidney J. 2022;15(9):1675-1684. https://doi.org/10.1093/ckj/sfac099.

2. Bäumner S, Weber LT. Nephropathic cystinosis: symptoms, treatment, and perspectives of a systemic disease. Front Pediatr. 2018;6:58. https://doi.org/10.3389/fped.2018.00058.

Learn More About Nephropathic Cystinosis
Thalassemia

Thalassemia is a rare, inherited blood disorder that impacts the body’s ability to produce hemoglobin and red blood cells. It can lead to progressive organ damage and other health problems.

Learn More About Thalassemia

Learn More About Thalassemia
Sickle Cell Disease

Sickle Cell Disease is an inherited blood disease in which the normally round red blood cells have an elongated “sickle” shape, resulting in a lack of blood flow that can cause organ damage. People with sickle cell are at increased risk of life-threatening complications that can require blood transfusions to manage disease complications.

Learn More About Sickle Cell Disease

Learn More About Sickle Cell Disease
ADA-SCID

Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) is an ultra-rare, inherited gene disorder that is caused by variations in the ADA gene, in which the combatant cells are absent. This absence results in an accumulation of toxins that inhibits the body from fighting off infections.

Learn More About ADA-SCID
LHON

Leber’s Hereditary Optic Neuropathy (LHON) is a rare, inherited condition that results in rapid, painless, central vision loss in one eye, followed weeks to months later by the second eye.1,2 The vast majority of patients become legally blind within one year.3

1. Carelli V, et al. J Neuro-Ophthalmol. 2017;37:371–81.

2. Carelli V, et al. Eur Ophthalmic Rev. 2019;13(Suppl 2).

3. Yu-Wai-Man P, et al. Prog Retinal Eye Res. 2011;30(2):81–114.

Learn More About LHON

Lean on us with the Chiesi Total Care Program

Patients with rare diseases can find the support they need with the Chiesi Total Care Program.

Let's Go

Expanded Access Programs

Expanded Access, sometimes referred to as compassionate use, may be an option for certain individuals with serious or life-threatening conditions or diseases who have no satisfactory or comparable alternative therapy to treat the disease or condition involved. Patients who qualify for a clinical trial on the Investigational Product requested are not eligible for Expanded Access.


For a full listing of Chiesi clinical trials, please visit www.clinicaltrials.gov.


For more information on criteria for access or submitting requests, please click here: https://www.chiesiusa.com/contact-us/expanded-access-programs


To submit a request for Expanded Access, the treating physician must submit the request through this link: https://chiesi.versaic.com


*Chiesi Global Rare Diseases reserves the right to revise this Policy at any time. Expanded Access is not available in areas where forbidden by law or regulation including ruling by country or region specific regulatory bodies, importation requirements, and/or Ethics Committee or Institutional Review Board.

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