Aimee Donald, MBChB, PhD, Pediatrician at Royal Manchester Children’s Hospital, and Professor at the University of Manchester, discusses Gaucher disease type 2.
Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that leads to the accumulation of glucocerebroside in cells and certain organs.
As Dr. Donald explains, there are three types of Gaucher disease – type 1, 2, and 3. Gaucher disease type 1 is characterized by the presence of bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease. Neurologic symptoms are not associated with this type; however, connections between Parkinson’s disease and GB1 mutations have been seen in research.
Gaucher disease types 2 and 3 are characterized by the presence of primary neurologic disease. Gaucher disease type 2 is associated with disease onset before the age of 2 years, limited psychomotor development, and a rapidly progressive course, with death by age 2–4 years. Patients with Gaucher disease type 3 may have onset before age 2 years, but usually have a more slowly progressive course, with survival into the 3rd or 4th decade.
Enzyme replacement therapy (ERT) is the standard of care for both Gaucher disease types 1 and 3, however it cannot cross the blood brain barrier to treat neuropathic symptoms that dominate Gaucher type 2.
PR001, an AAV9-based gene therapy, is currently under development as a potential cure for patients with Parkinson’s disease with GBA1 mutations as well as Gaucher disease types 1 and 2. Trials evaluating this therapy can be found on Prevail Therapeutics’ website.
To learn more about Gaucher disease and other lysosomal storage disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/