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Thirty Years of Humanitarian Aid for People with Rare Diseases

November 28, 2022
by Ashley P. Taylor

In a new paper, Pramod Mistry, MD, PhD, MBBS, and colleagues describe a thriving program that provides therapies to people with rare diseases.

For two decades, Pramod Mistry, MD, PhD, MBBS, professor of medicine (digestive diseases) and of pediatrics, has worked as part of a program to provide treatments to people with various rare genetic diseases collectively called lysosomal storage disorders (LSDs). In an article published April 4, 2022, in the Orphanet Journal of Rare Diseases, Mistry and colleagues present the history and accomplishments of this program, which has provided treatments to more than 3,300 people in more than 100 countries since its founding in 1991.

People with LSDs, the most common of which is Gaucher disease, have defects in the enzymes that break down toxic substances in the lysosomes. These toxic substances accumulate in cells and cause swelling of the organs, such as the spleen and liver in the case of Gaucher disease. LSDs predominantly manifest in children, though some have adult-onset forms. They often cause developmental delays and can be fatal if left untreated due to progressive liver and bone marrow failure, neurodegeneration, and involvement of other organ systems.  

LSDs are managed through lifelong intravenous infusions of the enzymes that are defective in people with the disorders. This approach is called enzyme replacement therapy, and pharmaceutical company Sanofi (formerly Genzyme) has manufactured FDA-approved enzyme replacement therapies for 30 years. But a therapy can only help people who can access it. Worldwide many people with LSDs cannot access these treatments or expert care through their health care systems. Recognizing that problem, Genzyme (now Sanofi) launched a Humanitarian Program to make its enzyme replacement therapies accessible to all patients as soon as the first such therapy, for Gaucher disease, received FDA approval in 1991. The Humanitarian Program began in the U.S. It has since expanded geographically to six continents and medically to include treatments for additional LSDs: Fabry disease, Pompe disease, and MPS I and MPS II (also called Hunter syndrome).

Mistry, who is director of Yale Lysosomal Disease & Inherited Metabolic Liver Disease Program and Gaucher Disease Treatment Center, has studied LSDs for 30 years. For 20 years, he has been part of the Humanitarian Program. He has been involved both as a member of the medical advisory board for the program’s India branch and through work with the non-government organization Project HOPE (Health Care for People Everywhere), which coordinated the logistics of the Humanitarian Program in Egypt.

The help that the Humanitarian Program provides has many ripple effects. Foremost, it restores desperately ill young children to health, and these children grow up to lead fulfilling lives. As a member of the medical advisory board in India, Mistry taught physicians to diagnose LSDs, understand the disease spectrum, and manage the disorders. Mistry’s former mentees, who began with little knowledge of rare diseases, have since become LSD experts and significant contributors to the field. “They became so knowledgeable and sophisticated in this disease that they were actually teaching us about the patterns of disease that we don't see very frequently here in the United States or in Europe,” Mistry said. Many patients who received treatment through the Humanitarian Program also give back, founding patient advocacy organizations to support others with LSDs and to raise awareness of rare diseases.

Mistry hopes that another ripple effect will follow: That the Humanitarian Program will serve as a model for similar programs centered around other rare diseases. “Lysosomal diseases are one group of diseases where there have been huge advances in treatment as well as genetics and management practices,” he said. “In many ways these disorders represent the vanguard of how we will be able to serve people and families who are suffering from rare diseases.”

Submitted by Julie Parry on November 28, 2022