Prevail Therapeutics is the creator of PR001, which is a gene therapy used for the treatment of Gaucher disease. They expected to begin dosing in the first half of 2020, but they have already dosed a single patient after he or she submitted a compassionate use request. This patient has type 2 Gaucher disease and was given PR001 after approval from an “international regulatory authority.” Researchers are hopeful that this patient and later patients will see positive results.
About Gaucher Disease
Gaucher disease is a lysosomal storage disorder. When the enzyme beta-glucocerebrosidase has extremely low or no activity, it leads to the accumulation of a lipid called glucocerebroside. This accumulation 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, which means 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 Study
Prevail Therapeutics submitted a Investigational New Drug application to the FDA, which is active and allowing for the company to plan Phase 1/2 of their clinical trial for patients with type 2 Gaucher disease. For the majority of participants, dosing will begin sometime in the first half of 2020, but one patient has already received the dosage. Using a compassionate use pathway, he or she was given PRoo1. The biotechnology company is excited to see the results of this gene therapy, and they are hopeful that they will be positive.
Along with the trial for those with type 2 Gaucher disease, Prevail also intends to begin a Phase 1/2 for people with type 3 Gaucher disease. Dosing is expected to begin in the second half of 2020 for this trial. Not only can PR001 be used for the treatment of Gaucher disease, but it can treat Parkinson’s disease as well. Prevail has an active Investigational New Drug application for their gene therapy for Parkinson’s, and they are now enrolling participants for Phase 1/2 of that trial.
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