Prevail Therapeutics has recently been granted the Orphan Drug designation by the FDA for their gene therapy PR001, which is intended to treat Gaucher disease. This treatment has also received the Rare Pediatric Disease designation for the treatment of the most severe form of Gaucher disease. Researchers are excited about these new opportunities, as this condition is one of unmet medical need. They stress the importance of any developments in treatments, specifically for neuronopathic Gaucher disease, the most severe form. Not only has PR001 been studied for the treatment of Gaucher disease, but it has also been indicated in a type of Parkinson’s disease. Researchers are hopeful that all of their efforts will lead to the success of this therapy.
About Gaucher Disease
Gaucher disease is a lysosomal storage disorder. The enzyme beta-glucocerebrosidase has extremely low or no activity, and it leads to the accumulation of a lipid called glucocerebroside. This buildup causes damage to the tissue and organs. The GBA gene is mutated in those who have this disease, and it is responsible for the production of beta-glucocerebrosidase. It is passed down in an autosomal recessive pattern, meaning a child must inherit the mutated version of the gene from both parents. The incidence of the general population is one of every 60,000 people, but it is more common within the Ashkenazi Jewish population.
Gaucher disease comes in multiple different types, which vary in symptoms and severity. Type I is characterized by an enlarged liver or spleen, anemia, easy bruising, and various bone issues like pain, fracturing, and arthritis. Lung disease is a less common symptom of this type. Types II and III affect the central nervous system (CNS), and they present all of the symptoms of type I. Along with these effects, those with types II and III may also experience unusual eye movements, seizures, and brain damage. Type II is the most severe of the three, as it progresses rapidly and is fatal. While many symptoms are present in all types, it is important to remember that different individuals present various symptoms with differing severity.
This disease is diagnosed with enzyme assay through a blood test or genetic testing. While both of these things can diagnose someone with Gaucher disease, the combination of the two are necessary to diagnose the specific type. Once one has been diagnosed, treatments vary depending on the type of Gaucher disease. For type II there are no treatments, but symptoms can be managed. Enzyme replacement therapy or oral medications exist for those with types I and III.
About the Designations
The Orphan Drug designation is given to treatments that are indicated for conditions that affect less than 200,00 people in the United States. This designation is typically given to therapies that treat conditions that primarily affect those who are under the age of 18. It also gives financial incentives to the companies that develop the treatment, along with seven years of market exclusivity.
The Rare Pediatric Drug designation is given to treatments for conditions that are life-threatening, affect less than 200,000 people in the U.S., and affect those younger than 18. Prevail Therapeutics will receive a voucher that can be redeemed for priority review for a different treatment as well.
Updates on PR001
Prevail Therapeutics has an active Investigational New Drug application for PR001 in terms of the treatment of neuronopathic Gaucher disease. They are also moving forward with their clinical trials. Phase 1/2 of the study of Type 2 Gaucher disease will begin dosing participants in the first half of 2020, while Phase 1/2 of Type 3 Gaucher disease’s clinical trial expects a similar time line.
Researchers are excited about the new designations and developments for PR001. They are hopeful that this gene therapy will improve the lives of those with Gaucher disease and offer a treatment that does not yet exist.
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