Sheba Medical Center, Tel Hashomer became the first hospital in the world to administer the investigational novel gene therapy drug candidate, PR001, to a child suffering from Type 2 Gaucher disease, the medical center said on Wednesday.
Type 2 Gaucher disease is the more severe form of neuronopathic Gaucher disease, which presents in infancy and involves rapidly progressing neurodegeneration leading to death in infancy or early childhood.
Prevail Therapeutics Inc. – a US-based biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases – granted a compassionate-use request to Sheba for the administration of PR001, an investigational AAV9-based gene therapy delivering the GBA1 gene.
The decision to grant the compassionate-use request followed the Health Ministry’s approval of the experimental administration of PR001.
At Sheba, the child received the investigational gene therapy for the rare disorder at the Edmond and Lily Safra Children’s Hospital. PR001 was administered via an injection into the patient’s cisterna magna. The procedure was carried out by Dr. Zion Zibly, deputy director for the department of neurosurgery.
Prof. Yair Anikster, head of the metabolic disease unit at the children’s hospital, said, “Sheba is proud to be the first hospital in the world to administer this potentially disease-modifying gene therapy, which is a great example of the work we are doing to help advance potential new therapeutic modalities for inborn errors of metabolism.”
Gaucher disease is a lysosomal storage disorder caused by mutations in the glucocerebrosidase gene, GBA1, leading to multi-organ pathology. Patients with severe mutations in the GBA1 gene can present with neuronopathic Gaucher disease, also termed Type 2 or Type 3 Gaucher disease. Type 2 Gaucher disease presents in infancy and involves rapidly progressive neurodegeneration leading to death in infancy or early childhood. Type 3 Gaucher disease typically presents in childhood and can involve neurological manifestations such as gaze and motor abnormalities and seizures.
There are no therapies approved by the FDA for the treatment of neuronopathic Gaucher disease.