Access to Therapies for Rare Diseases


What is a Rare Disease?

A disease or disorder is defined as rare when it affects fewer than 1 in 2,000 people in Europe and fewer than 200,000 in the United States. Access to treatment for those with rare or special conditions can be a big challenge, even in developed parts of the world such as North America and Western Europe. For rare diseases, the mean length of time from symptom onset to an accurate diagnosis is around 4.8 years – it isn’t difficult to see how much longer this might be in less developed parts of the world. Some 7,000 rare diseases have been identified, and treatment exists for less than 5%. This means that for many people with rare diseases, access to therapies can be difficult and sometimes impossible due to lack of available treatment.

What we are doing to help those affected by rare diseases?

Shire and Direct Relief, a medical relief non-profit, are working together to improve access to therapy for patients living with Lysosomal Storage Disorders in countries where Shire’s humanitarian program is available. Shire and Direct Relief are also working together to support the training of physicians about these diseases and to ensure continued access to therapy and related medical supplies. Additionally, Direct Relief has partnered with patient organizations to raise disease awareness.

Lysosomal Storage Disorders

Lysosomal Storage Disorders (LSDs) are a group of rare diseases caused by a lack of enzymes that normally eliminate waste in the cells of the body. There are over 40 known LSDs, however there is only therapy for a few. Shire currently manufactures treatments for patients with Fabry disease, Gaucher disease, and MPS II (Hunter syndrome).


Applications, Eligibility and Frequently Asked Questions (FAQs)

How to Apply?

Physicians are eligible to apply on behalf of their patients if the patient resides in a country where Shire’s humanitarian program is available and the patient has been diagnosed with Gaucher disease, Fabry disease, or MPS II (Hunter syndrome). Physicians must complete the online application in order for their patients to be considered for enrollment. The applications will be reviewed by an independent Medical Expert Committee and the physicians will be notified regarding their submissions after the independent Medical Expert Committee makes their decision. Direct Relief and Shire are not involved in the patient selection process.

Who is eligible?

Patients are eligible if they are living in a country where Shire’s humanitarian program is available and they meet the clinical requirements for Gaucher disease, Fabry disease, or MPS II. Applications of those who meet the basic requirements will be reviewed by the independent Medical Expert Committee. This committee will decide on those that will be enrolled into the program. Shire and Direct Relief are not involved in the patient selection process.

Contact and Inquiries

Please direct all questions to