Pramod K. Mistry, MD, PhD, Professor of Pediatrics and Internal Medicine, chief, Department of Pediatric GI/Hepatology, Yale University School of Medicine, explains that Gaucher disease does not only effect macrophage cell types. Related diseases such as cancer, Parkinson, and osteoporosis occur as a direct interaction with cells across the entire body.

Currently approved options are successful at controlling Gaucher disease but do not focus on the entire body. The next step is to have an agent that can actively regulate lipid metabolism in all cells.

The Genzyme Corporation drug eliglustat is currently under investigation and may be able to fulfill the full management of lipid metabolism. After a successful phase II trial the drug is now moving on to a phase III investigation. If approved this drug may prove useful at fulfilling the unmet needs of Gaucher disease.

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Dr. Pramod Mistry from Yale University School of Medicine on Gaucher Disease Entering a New Era

Dr. Mistry on Gaucher Disease Entering a New Era

Pramod K. Mistry, MD, PhD, Professor of Pediatrics and Internal Medicine, chief, Department of Pediatric GI/Hepatology, Yale University School of Medicine, describes the history of Gaucher disease beginning 20 years ago when a therapy did not exist for the disease.

Before the development of a treatment patients with Gaucher disease experienced a very degraded quality-of-life and a shorter life expectancy. Chronic disabilities were often developed such as liver disease, cancer, debilitating bone diseases, and rarely pulmonary hypertension. Chronic pain was also very common which often led to an addiction to opioids and other pain medications.

As new treatments were approved there was a huge turn around in the quality-of-life for patients within a very short period of time. The next generation of patients is doing well; many of the chronic side effects of the disease are not as prevalent.

Even with modern treatment options there is still an increased risk of Parkinson’s, osteoporosis, and cancer. This has spurred further research into the mechanisms that drive Gaucher disease.

Dr. Pramod Mistry from the Yale University School of Medicine Explains the History of Gaucher Disease

Pramod K. Mistry, MD, PhD

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Dr. Mistry on Gaucher Disease Entering a New Era

Dr. Mistry Explains the History of Gaucher Disease