Gaucher Disease and Gene Therapy: Approaches and Research Progress

According to a story from the National Gaucher Foundation, the use of gene therapy in order to treat Gaucher disease has long been floated in medical theory, but only in recent years has it begun to approach the realm of reality. Currently, there are two gene therapy methods being developed that could wind up being a treatment for this rare disorder.

About Gaucher Disease

Gaucher disease is a genetic disorder which is most characterized by the abnormal buildup of the substance glucocerebroside in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy, Miglustat, and Eliglustat. To learn more about Gaucher disease, click here.

Approaches to Gene Therapy

Gene therapy has the potential to provide long term benefits or even an effective cure for the disease with a single administration. The two approaches being developed include:

  • Gene augmentation, which is when a functional copy of the affected gene is added to the relevant cells, allowing them to function normally.
  • Gene editing, a more experimental approach that removes the mutated gene and replaces it with a healthy copy, allowing the cell to function normally.

Gene therapy can be administered in vivo, when an IV infusion introduces the vector to the blood or cerebrospinal fluid. In ex vivo administration, stem cells collected from the patient are modified in the lab to carry the corrected gene. These cells are replicated in the lab before being reintroduced to the patient’s body.

There are currently two trials that are testing gene therapy for this illness.

One trial, headed by AVROBIO, is phase 1/2 that will test a lentiviral gene therapy for up to 16 patients between ages 18-35 with Gaucher disease type 1. The study is currently enrolling participants.

Another phase 1/2 trial is focused on both Gaucher disease and Parkinson’s. Older patients with Gaucher have a high risk of developing Parkinson’s as they age. This trial is also in the midst of recruiting patients.

To learn more about the progress of gene therapy for Gaucher disease, click here.


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