Treatment options for MPS I, Gaucher, Fabry and Pompe disease

Early diagnosis is even more urgent now that enzyme replacement therapy exists

Treatment options vary across the lysosomal storage disorders and patients often undergo a variety of therapies and care. Various relief and support options (such as dialysis, surgery or physical therapy) can be helpful with managing symptoms. However, these are all palliative and do not prevent disease progression.

Disease-specific therapies that effectively address the underlying cause of disease are available for several of the lysosomal storage disorders. These therapies include:

• Enzyme replacement therapy
• Substrate inhibition
• Human Stem Cell Transplantation

Enzyme replacement therapy

This involves the intravenous administration of a recombinant form of the missing enzyme. Enzyme replacement therapies have the potential to slow the natural course of lysosomal storage disorders, improving certain signs and symptoms, improve life expectancy and enhance quality of life.

Enzyme replacement therapies are currently available for Gaucher, Fabry, Pompe, MPS I, MPS II, and MPS VI, and are in development for other lysosomal storage disorders.

Substrate inhibition

Substrate inhibition therapy intends to slow the rate of production of the substrate that is accumulating as a result of the enzyme deficiency. It has recently been introduced for treatment of symptomatic patients with mild to moderate non-neuronopathic Gaucher disease for whom enzyme replacement therapy is unsuitable.

Human stem cell transplantation

In human stem cell transplantation, healthy stem cells (usually from bone marrow, sometimes from cord blood) are transplanted intravenously to the patient to produce the enzyme as well as new healthy cells. It was first attempted in the 1980s and since then has been used almost exclusively to treat a selected group of severely affected MPS I patients. Despite its challenges and risks, it has had some positive results in Hurler patients, especially when performed early in the course of the disease. Combinations of enzyme replacement therapy with human stem cell transplantation are currently being investigated. 

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