Rare Diseases

There are more than 7,000 different rare diseases, collectively affecting more than 350 million people around the world.

Given their rarity, these conditions are difficult to diagnose and treat. Patients can endure a long journey involving specialty doctors, tests, and misdiagnoses. Focusing on these uncommon and underserved medical conditions, our Rare Disease franchise is committed to empowering the lives of patients with rare diseases by offering sustainable, transformative healthcare options.

Lysosomal storage disorders (LSDs)—a group of rare genetic conditions caused by enzyme deficiencies—are a cornerstone of our business, and the medical area for which we are most well-known. These disorders are known as ‘orphan diseases’ and affect only a few thousand people worldwide.

Our first ten years of research focused primarily on finding a treatment for an LSD called Gaucher disease, the success of which established our leadership in the rare disease community. Over the next two decades we expanded our focus to include other LSDs including Fabry disease, Pompe disease and Mucopolysaccharidosis I (MPS I).

Our breakthrough work in genetic engineering and recombinant DNA manufacturing has enabled the large-scale production of enzyme replacement therapies (ERTs). ERTs work by breaking down the fatty substance that accumulates in certain cells due to the lack of native enzyme.

Inspired by patients around the world

Acid sphingomyelinase deficiency (ASMD) patient
Fabry disease patient
Pompe disease patient

Above from left to right: Alfie, acid sphingomyelinase deficiency, United Kingdom; Hsieh, Fabry disease, Taiwan; Ingo, Pompe disease, Australia

Ongoing innovation in rare diseases

Continued research and development is critical to advancing care for people with rare diseases. Expanding both within and beyond our traditional core area of lysosomal storage disorders, we have one of the largest rare disease pipelines in the industry across multiple diseases and modalities.

We currently have a development program focused on acid sphingomyelinase deficiency (ASMD), an LSD with no treatments available currently. As we strive to improve the standard of care for patients with rare diseases, we don't stop once one therapy is approved in a disease area. Our ongoing development has already led to additional therapies for Gaucher disease. And, we have investigational programs focused on potential new approaches in Pompe disease, Gaucher disease type 3 and Fabry disease.

We're also applying our expertise in LSDs and gene mutations to study new disease areas. One of the areas our scientists have been focused on is the pathway in the body’s synthesis of glucosylceramide (GL-1). GL-1 is a core building block of more complex glycosphingolipids (GSLs) and gangliosides that can cause disease when too many of them build up in cells. Genetic defects that result in the excessive buildup of GSLs or gangliosides are implicated in several rare inherited diseases, which have few, if any, treatments today. 

Supporting services

Because of the rarity of many of the diseases we treat, the patient and healthcare communities are small and often have limited resources. To support them, we are committed to providing services that complement our therapies.

  • We provide many qualified patients with case managers to help navigate the intricacies of insurance, and we have numerous programs worldwide to help facilitate patient access to treatment.
  • By establishing registries—large, often multinational databases to which physicians contribute clinical data on patients—for several LSDs, we help pool knowledge and improve understanding of rare diseases that would be otherwise difficult to study.
  • We develop a wide variety of educational materials, both in print and online, for patients and their families as well as health care professionals.
  • Our Patient Advocacy group is deeply involved in the patient communities, working to understand and advocate for their needs.
  • Our Medical Information team is dedicated to answering questions about the diseases we treat and our products.
  • Around the world, we partner with local patient organizations to support and advocate for the needs of their patient communities. This includes our Humanitarian Program which serves the needs of patients around the world.

Learn about treatment options:

Gaucher disease
Gaucher disease
Fabry disease
Pompe disease

U.S. rare genetic diseases support
Patient services
We offer personalized, confidential support services to people living in the U.S. affected by Gaucher disease, Fabry disease, Pompe disease, or MPS I disease.
Learn about our LSD registries
These large, often multinational databases of clinical data, aggregate knowledge to help improve understanding of rare diseases that would be otherwise difficult to study.

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