Gaucher disease type 1 and 3: ERT shows promising long-term efficacy
Enzyme Replacement Therapy for Gaucher Disease types 1 and 3 shows promising long-term results.
Gaucher disease is a rare genetic condition passed down from parents to their children. In this scenario, when both parents are carriers (who are healthy with one Gaucher disease gene defect) have a baby, there is a one in four chance of having a baby with Gaucher disease.
Enzyme Replacement Therapy (ERT) for type 1 and 3 Gaucher disease
There are two main types of treatment. The solution we provide you will depend on the type of Gaucher disease you present with. However, for the purpose of this article, we are going to focus on the treatment provided to patients with type 1 and 3 Gaucher disease - namely, Enzyme Replacement Therapy (ERT).
Enzyme Replacement Therapy, commonly referred to as ERT, involves having enzyme infusions every two weeks to balance the levels of the missing enzyme in your body. This form of treatment is for Gaucher disease types 1 and 3. It’s essential to note that enzyme therapy cannot replace deficient enzymes in the brain. Thus it cannot help the neurological (brain) side of type 3 Gaucher disease.
This treatment has been transformative in leading to an extraordinary reversal of the disease in the liver, spleen and blood counts.
The long-term efficacy of ERT in Gaucher disease type 1 and 3
At the WORLDSymposium 2023, Dr Pramod Mistry recently presented the latest data from the ICGG Gaucher Registry, which has been operational for over 30 years involving nearly 7,000 individuals around the world that assembled data on children with Gaucher disease types 1 and 3 that started ERT before the age of 18.
To further discuss the findings, Dr Pramod Mistry recently sat down with Check Rare to provide an in-depth insight into the long-term efficacy of ERT in Gaucher disease types 1 and 3, noting the short-term and long-term outcomes of ERT reflecting the significant continuing improvements in individuals.
Watch the video below to learn more.
Getting advice
If you or a loved one has or is suspected to have Gaucher disease, please get in touch. Our team will answer any questions you have, support, inform and guide you every step of the way.
In the meantime, here are a few resources for further information and support:
· National organization for rare diseases