Is there a treatment for Gaucher disease?
Individuals with lysosomal storage diseases cannot produce sufficient specific enzymes for the body to work properly. These enzymes, which cause the breakdown of a large number of different types of substances, are not present at all or only in very small quantities.
The diagram below explains the processes behind a lysosomal storage disorder.
The result is an accumulation of material that disrupts the normal functioning of the cells. This can cause organs to be affected, and this can lead to life-threatening problems.
In Gaucher disease, the body is unable to produce the enzyme glucocerebrosidase necessary to excrete certain waste products. Researchers have developed a treatment to replace that enzyme in the body: enzyme substitution therapy or enzyme replacement therapy.
Since 1991, enzyme replacement therapy has been available for the treatment of Gaucher disease.
Enzyme replacement therapy (Enzyme Replacement Therapy or ERT)
With this therapy, the missing lysosomal enzyme is replaced by infusions with an enzyme that is very similar to the missing human enzyme. Also in Belgium enzyme replacement therapy for the treatment of Gaucher disease is on the market and this is fully reimbursed.
- The treatment consists of regular infusions of the missing enzyme to ensure that the metabolism (metabolism) can return to normal and stop the accumulation of the waste.
- Enzyme replacement therapy is given every 2 weeks and is even given in a number of cases (in stable adult patients) every 4 weeks. Administration of the infusion is generally well tolerated, with few side effects.
The diagram below explains the effect of enzyme replacement therapy
There is increasing evidence that the earlier the therapy starts after the first symptoms appear, the better the results will be. The course of the disease can be slowed down or changed and late complications can be avoided, so that many patients can lead a normal life.
Currently, ERT cannot pass through the blood-brain barrier and therefore has little or no effect on the symptoms related to the central nervous system.
Since the enzyme replacement therapy for Gaucher disease was developed in 1991, treatment was recieved by more than 5,500 Gaucher patients around the world.
For the treatment of Fabry disease, Pompe disease and Mucopolysaccharidosis type I (MPS I or Hurler's disease, Hurler-Scheie and Scheie), enzyme replacement therapy is also available. For many other lysosomal storage diseases, the treatment is under development.
Substrate reduction therapy (SRT):
This therapy is administered by the oral route (by mouth). The purpose of SRT is to reduce the production of material in the cells which would accumulate.
However, currently registered SRT therapy is only effective in a limited number of cases at present, is associated with side effects and is not as effective as ERT.
In the case of Gaucher disease, the current SRT therapy is therefore only used (and reimbursed) for adult Gaucher patients who, for medical reasons, cannot receive ERT. Moreover, only patients with mild form of Gaucher disease are eligible and their clinical picture must be stable after at least 2 years of ERT. Currently clinical trials are working on a potentially more efficient oral drug.
Relief of symptomsPatients suffering from Gaucher disease can undergo a number of therapies and procedures to relieve symptoms. In the past, the enlarged spleen was sometimes removed (splenectomy), sometimes pain medication is given to relieve the bone pain or a replacement of the hip is necessary. However, this is not a specific treatment for Gaucher disease and these treatments do not address the underlying cause of the disease, nor do they replace the missing enzyme that causes the accumulation of waste.