Research on Treating Mice for Gaucher Disease in Utero Offers Hope

According to a recent article for, there is new potential for genetic therapy to cure the often deadly neurodegenerative disorder known as Gaucher disease. The new studies were first conducted on fetal mice by UCL, the KK Women’s and Children’s Hospital, and National University Health System in Singapore.

The idea is to introduce genetic therapy in utero to change the mutated genes to normal functioning genes within the newborn before birth.

What is Gaucher disease?

Gaucher disease is a lysosomal storage disorder in which a genetic mutation prevents the enzyme beta-glucocerebrosidase from functioning properly. The enzyme is meant to break down fatty chemicals called glucocerebrosides. When it fails, fat-laden cells build up on parts of the organs, on bone marrow, and the nervous system. This causes a long list of symptoms, including seizures and brain damage. To learn more about Gaucher disease, click here.

Gaucher disease can range in severity. Some mild cases can be treated postnatally, but many cases cannot. At its most severe, the disease comes on very soon after birth, is untreatable, and leads to a child’s death. Offering therapy as early into development as possible is the only surefire way to defer brain damage.

A new hope

In the recent study, a viral vector administered genetic material into the brains of fetal mice with neuropathic Gaucher disease. The mice who received the gene therapy showed positive results, with less brain damage.

They also survived longer, with the youngest dying at 18 weeks. This is in contrast to the oldest mouse who was not treated with gene therapy, and survived for only 15 days. The mice receiving the therapy had no further neurodegeneration and maintained fertility and mobility that would ordinarily be lost. Treatment of mice after they were born with the same therapy was also effective, but not on the same caliber as in vitro therapy. These results emphasized the importance of initiating therapy in the womb.

After receiving positive results on mice, the study moved on to non-human primates.

“Macaques and humans share a very similar neurological, immunological and physiological developmental timeline in the womb, making them accurate models for preclinical investigations before clinical trials can proceed. We have used a clinically relevant method to deliver the GBA gene using AAV vectors to the brain efficiently.”

explained Associate Professor Jerry Chan, Senior Consultant, Department of Reproductive Medicine, KK Women’s and Children’s Hospital.

Again, the genetic material was introduced into pregnant Macaques at a point in gestation when a diagnosis of genetic conditions can be made and the immune system is the most receptive to genetic therapy. The results indicated that the use of viral vectors on a developing brain has the potential to correct genetic errors before birth, not only in Gaucher disease but also in other conditions of mutations.

The study included scientists from Imperial College London, King’s College London, the University of Oxford, and an international team of researchers. Apollo Therapeutics has also become involved with these specific types of genetic trials, in hopes of finding a cure for Gaucher disease.

“The Association has been involved as part of this project from a very early stage providing the initial grant to which allowed them to begin their research and are delighted to hear of the promising results published today.”

remarked Dan Brown, Chairman of the Gaucher Association.

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