Gene Therapy in Mice May Prevent Gaucher Disease

First a TrialSite News digression into Gaucher disease is an inherited disorder that affects many of the body’s organs and tissues. The signs and symptoms of this condition vary widely among individuals.  There are several types of the disease based on their characteristic features. The National Gaucher Foundation (USA) reports that the incidence of Gaucher’s is about one in 20,000 live births; around one in 100 people in the general US population is a carrier for type 1 Gaucher’s disease. Among Ashkenazi Jews, the rate of carriers is considerably higher reported at 1 in 15. Type II Gaucher’s disease shows no preference for any ethnic group. Type III is especially common in the population of the north Swedish region where the incidence of the disease is one in 50,000.

Current treatment costs total $200,000 annually for a single person and is continued for life making this drug costs total in the millions during a lifetime.  Due to low incidence treatment is considered in the classification of an orphan drug in many countries, meaning government recognizes and accommodates the financial constraints that limit research into drugs that address a small population.

Back to the new study which TrialSite News picked up from News-Medical.Net (part of the AZoNetwork), led by UCL, the KK Women’s and Children’s Hospital and National University Health System in Singapore, was published in Nature Medicine. The study highlighted “the potential of fetal gene therapy to prevent and cure neonatal lethal neurodegenerative diseases in humans in utero” (in the womb).  Read more about the actual study which focused on the use of “viral vector to deliver genetic material into the brains of fetal mice carrying neuropathic Gaucher disease, caused by mutations in GBA. Mice who received the gene therapy exhibited less brain degeneration and survived considerably longer than untreated mice.”

Lead Research/Investigative Site


KK Women’s and Children’s Hospital

National University Health System Singapore

Lead Research/Investigator

Dr. Ahad Rahim, UCL School of Pharmacy

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