Rare Diseases

Issues & Solutions

Quick Facts

There are over 7,000 known rare diseases, affecting over 350 million people worldwide.


Many rare diseases do not have available treatment yet, but Direct Relief is able to provide treatment for spinal muscular atrophy (SMA), pediatric acute lymphoblastic leukemia (ALL), and three lysosomal storage disorders (LSDs).


Through its partnerships with Biogen, Amgen, and Takeda, Direct Relief helps patients living with certain rare diseases by providing access to critical therapies, some requiring lifelong supply, in countries where these live-saving therapies are not otherwise available.

Rare Diseases, Explained

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 upper income countries in 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.

Access to Therapies for Rare Diseases

Since 2013, Direct Relief has partnered with Shire (now Takeda) on its global Charitable Access Program to improve access to enzyme replacement therapy for those living with three lysosomal storage disorders (LSDs) – Fabry Disease, Gaucher Disease, and MPS II (Hunter’s Syndrome) – across 14 countries and continue to enroll new patients to this program each year.

In 2019, Biogen and Direct Relief launched a pilot of the Spinraza Individual Patient Humanitarian Access Program to provide access to their biological therapy to patients with spinal muscular atrophy (SMA) in India. In 2020, Amgen and Direct Relief launched a program to provide a rare cancer therapy to eligible pediatric patients with acute lymphoblastic leukemia (ALL) in India in 2020 and will expand into Pakistan.

Through these programs, Direct Relief and donor companies are providing biological cold chain therapies, free-of-charge to eligible patients, ensuring proper temperatures are maintained throughout the supply chain.

Direct Relief serves as a liaison between companies, independent medical experts, patients and their families, treating physicians, and medical facilities. To ensure patient selection is made on a clinical and ethical basis, each program enlists a group of global medical experts for each relevant disease, independent of Direct Relief and pharmaceutical companies, to review the blinded applications.

Neither Direct Relief nor the drug manufacturers are involved in the decision-making process. The goal is to ensure patients have a chance to improve their health and lives through a regular donation of treatment, and to ensure all medical-related components are in place for treatment to be provided effectively.

Direct Relief also works to educate physicians about these diseases and to ensure continued access to therapy and related medical supplies.

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