With treatment, people with type 1 Gaucher may lead full lives and may be able to carry out many of their normal daily activities. Some people with type 1 Gaucher disease have no clinical symptoms and do not need treatment. For Gaucher patients that do require treatment, the options are:
People with Gaucher disease are deficient in the enzyme glucocerebrosidase, the recommended treatment is enzyme replacement therapy; which has to be infused directly into a vein at regular intervals throughout the individual’s life. As such, enzyme replacement therapy (ERT) is an effective therapy, rather than a cure.
There are three licensed enzyme replacement therapies available for doctors to prescribe to treat type 1 Gaucher disease and the visceral disease of type 3 Gaucher disease:
This treatment reduces the amount of fatty substances made in our cells and therefore helps to reduce their build up and enables the residual enzyme level to get rid of the build-up in the cells. SRT is an oral therapy, with two products licenced:
These products are not suitable for everybody and your specialist doctor will advise if they are right for you.
For patients with Gaucher disease who have low bone density and fractures, the bisphosphonate group of drugs (e.g. oral alendronate or IV zoledranate) are often prescribed to help combat osteoporosis and bone disease.
If you experience bone pain, talk to your doctor about pain management it may be helpful if you keep a pain diary. If it is necessary for you to undergo orthopaedic surgery it is essential that this is planned in conjunction with your specialist centre.
For those patients who have had their spleen removed long term antibiotic therapy and up to date vaccinations are essential.
Gene therapy can be defined as the introduction of specific genetic material to cells of individuals for therapeutic benefit. There are a few different ways gene therapy could work: by replacing a defective gene that is not working properly with a functional one in a person’s cells, by deactivating the defective gene, or by providing a healthy functional copy of a gene alongside in a patient’s cells to compensate for a defective copy that causes a disease. This treatment is not limited to a single method of delivery, with a number of different approaches being studied, such as using specific technology to repair or disrupt a defective gene or changing cells outside of a person’s body and returning them back into the individual.
Ideally, gene therapy would only need to be administered once in the lifetime of the person. Even though the concept underlying gene therapy is straightforward, delivering genes into cells of a living organism is a very challenging process. Therefore, an essential component of gene therapy studies is the development of vectors that can efficiently deliver genetic material into cells.
If you are interested in learning more about gene therapy, you can check out the following website: Gene Therapy Approaches – Patient Education
For Type 1 Gaucher disease, there are a number of gene therapy clinical trials currently looking for participants to enroll. We have compiled information about these trials below with the aim of making it easy for the community to understand the similarities and differences between them.
There are multiple factors to consider when deciding whether or not to take part in any form of medical research. Please note that each clinical trial is unique and the intention of capturing the information below is not to suggest that any trial is preferable to another.
If you or a loved one are interested in taking part in a clinical trial, please speak to your doctor about the options available to you.
