Patients Are Being Asked for Their Opinions on Treatments For Lysosomal Storage Diseases


In an effort to better understand patient experiences, researchers at the Massachusetts General Hospital are surveying people with lysosomal storage diseases about how they view their treatments, reports CheckOrphan. The survey takes approximately 15 minutes to complete and can be accessed here.

Lysosomal storage diseases are a group of inherited diseases that affect approximately 1 in 7,000 people. There are around fifty different known forms of lysosomal disease, including Pompe, Gaucher, and Fabry diseases, and Hurler, Hunter, and Maroteaux-Lamy syndromes. Enzymes in a part of the cell called the lysosome cause the diseases. The enzymes are meant to break down molecules into smaller components, but in people with a lysosomal storage disease these enzymes malfunction and create a build-up of toxic substances in cells. This leads to symptoms that can affect major tissues and organs, including the heart, lungs, brain, liver, and central nervous system, amongst others.

The treatments for lysosomal diseases are currently limited, but depending on the form of the disease some patients may be eligible for enzyme replacement therapy (ERT) and/or substrate reduction therapy (SRT). ERT works by artificially inserting the patient’s missing enzyme, usually through an IV or solution, whereas SRT limits the build-up of substances caused by the damaged enzymes before they can reach a harmful level.

One example of ERT and SRT use can be seen in Gaucher disease type 1. This disease is typically treated with ERTs. They are effective at improving several physical symptoms, including liver and spleen enlargement, issues with bones, low platelet counts, and anaemia. However, they do not affect the neurological symptoms seen in Gaucher disease type 2 and type 3. There are currently two main forms of ERT for Gaucher disease available: Ceredase, an injected enzyme that comes from a placenta, and Cerezyme, a synthetic form of the same enzyme that is more widely available. Both of these drugs were introduced in early 1990s, and in 2003 a new SRT treatment for Gaucher type 1 called Zavesca was released. It is the first oral tablet to be used to treat the disease, and is often taken when ERTs are ineffective.

Although the clinical effects of these drugs have been closely studied, patients are rarely asked for their opinions about the treatments.

This survey, led by Amel Karaa who is the clinical director of the Massachusetts Research Program, will investigate lysosomal storage disease patients’ attitudes towards their treatment. Patients are asked to answer 21 questions estimated to take about 15 minutes in total to complete. Most questions are multiple choices, but others allow patients to answer in their own words. The survey includes questions on how patients feel on the day of their ERT, what factors would make them consider switching to oral therapies, and what factors would prevent them. The survey is open to anyone with Fabry, Gaucher, Pompe, and MPS types I, II, and VI within or outside of the US, and can be accessed here.

This survey allows patients to communicate with doctors about how they view their treatments and what factors are important to them. Hopefully, this will help doctors to understand patient’s needs and provide better medical care.




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