Gene therapy for Gaucher's disease! American FDA awarded avr-rd-02 orphan drug qualification and rare pediatric disease qualification!

February 16, 2020 / BIOON / -- Preval therapeutics is a biotechnology company dedicated to the development of AAV gene therapy for patients with neurodegenerative diseases Recently, the company announced that the U.S Food and Drug Administration (FDA) has granted its gene therapy pr001 to treat patients with Gaucher disease (GD) orphan drug qualification (odd) In addition, the FDA awarded pr001 the rpdd for the treatment of neurodegenerative Gaucher disease (NGD) NGD is the most serious type of Gaucher's disease Gaucher's disease (GD) is a lysosomal storage disease caused by the mutation of glucocerebrosidase gene gba1, which leads to multiple organ pathological changes Gba1 gene encodes lysosomal enzyme - β glucocerebrosidase (gcase), which is necessary for processing and circulating glycolipids Glycolipid is a cellular lipid component that is known to accumulate with age Patients with severe gba1 mutations may develop neurodegenerative Gaucher disease (NGD), also known as type 2 or 3 Gaucher disease Type 2 Gaucher's disease occurs in infancy and involves rapid progressive neurodegeneration, leading to infant or early childhood death Type 3 Gaucher's disease usually occurs in childhood and may involve neurological symptoms such as epilepsy, gaze and dyskinesia There is no FDA approved treatment for neurodegenerative Gaucher disease (NGD) Pr001 is a potential disease modifying, single dose gene therapy, which uses adeno-associated virus (AAV9) vector to deliver gba1 gene encoding gcase to patient cells In addition to NGD therapy, it is also being developed to treat Parkinson's disease (pd-gba) with gba1 mutations Pd-gba and Gaucher's disease have the same intrinsic gene mechanism, which is considered to represent a disease continuum One copy of gba1 gene was mutated in pd-gba patients, while both copies of gba1 gene were mutated in patients with Gaucher disease These mutations lead to the deficiency of gcase and the accumulation of glycolipids, which are toxic and cause inflammation This leads to lysosomal dysfunction and aggregation of intracellular alpha synuclein, which is believed to cause inflammation and neurodegeneration in patients with pd-gba and NGD In December 2019, pr001's research drug application (ind) for the treatment of NGD was approved Prevail is conducting phase I / II clinical trials for patients with type 2 Gaucher's disease and is expected to start administration in the first half of 2020 The company also plans to conduct phase I / II clinical trials in patients with type 3 Gaucher's disease in the second half of 2020 under the same ind ASA Abeliovich, M.D., founder and CEO of prevail, said: "we are very pleased to receive these important FDA qualifications, which emphasize the importance of our work and support our belief that there is an urgent need for new gene therapy to treat Goucher's disease, especially for severe neuropathy, and there is no FDA at present Approved treatment " In October last year, the U.S FDA also awarded avrobio gene therapy avr-rd-02 the orphan drug qualification to treat Gaucher's disease (GD) Avr-rd-02 is an in vitro gene therapy based on lentivirus It is composed of patients' own hematopoietic stem cells, which can express glucocerebrosidase (gcase) after gene transformation Avr-rd-02 aims to provide long-term and potential life-long treatment benefits for patients with Gaucher's disease through single dose treatment Original source: precious therapeutics' pr001 receives orphan drug design and rare pediatric disease design from FDA