Скачать с ютуб Long Term Efficacy of Enzyme Replacement Therapy (ERT) in Gaucher Disease Type 1 and Type 3 в хорошем качестве

Long Term Efficacy of Enzyme Replacement Therapy (ERT) in Gaucher Disease Type 1 and Type 3

Pramod Mistry, MD, PhD, Professor of Medicine at Yale University School of Medicine, discusses the efficacy of enzyme replacement therapy (ERT) in both Gaucher disease type 1 and type 3. Gaucher disease is a rare lysosomal storage disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen. There are three types of Gaucher disease – type 1, 2, and 3. Gaucher disease type 1 mostly impacts the periphery. Gaucher disease type 2 impacts both the periphery and brain, and is the most severe type of disease. Gaucher disease type 3 is less severe than type 2 but can involve neurologic symptoms. The symptoms of Gaucher disease type 1 and type 3 can vary widely between individuals, but may include enlargement of the liver and spleen, anemia, thrombocytopenia (low platelet count), bone pain and fractures, Persons with Gaucher disease type 3 may also show cognitive impairment, eye problems, seizures, and/or a loss of coordination. ERT is the standard of care for both Gaucher disease type 1 and 3, however that treatment cannot cross the blood brain barrier. At WORLDSymposium 2023, Dr. Mistry presented the latest data from the ICGG Gaucher Registry looking at the natural history of individuals with either Gaucher disease type 1 or type 3. As Dr. Mistry noted, the use of ERT in both patient populations dramatically improved hematological and spleen volumes.