According to a recent article, researchers at the WORLDSymposium revealed they are looking into using pentosan polysulfate sodium to treat Maroteaux-Lamy syndrome.
Maroteaux-Lamy syndrome is an inherited disease that is quite rare. Most people with this condition either lack a partial or a complete amount of an enzyme known as arylsulfatase B (also known as N-acetylgalactosamine-4-sulfatase). With this enzyme deficiency, the body starts to accumulate complex carbohydrates known as glycosaminoglycans, which can severely impact organ functioning. Maroteaux-Lamy syndrome varies from person to person; some people will only experience mild symptoms while others can experience life-threatening outcomes.
Common symptoms of Maroteaux-Lamy syndrome include:
- Clouding of the cornea, vision loss
- Coarse facial features
- Skeletal and muscular deformities, which can be acute
- Abnormalities within the joints
- Mild to severe chronic pain
- Numbness, tingling
- Loss of hearing (and learning difficulties as a result)
- Enlarged spleen and/or liver
- Pulmonary and cardiac disease
Symptoms sometimes appear in infancy, but in other cases it is long into adulthood before they slowly develop. It’s imperative that parents talk with their child’s healthcare team if they suspect their child has any of these symptoms.
In severe cases of Maroteaux-Lamy syndrome, symptoms include mobility issues (problems walking), total absence of or delay with puberty, and heart failure in early 20s-30s. Most people with a delayed progression will eventually experience cardiac and pulmonary disease.
Finding New Treatments
Currently, the enzyme replacement therapy (ERT) Naglazyme is the standard of care for patients diagnosed with Maroteaux-Lamy syndrome. Although this method has proven to be effective, patients still endure excruciating and sometimes debilitating musculoskeletal symptoms. These symptoms thus need further therapies to be treated, according to clinicians.
As a result, researchers have started studies to test other therapies. One such researcher is the rare disease expert Dr. Roberto Giugliani. He is the lead investigator in a study that is evaluating using PPS to treat MPS-VI.
Pentosan Polysulfate Sodium (PPS)
The drug pentosan polysulfate sodium, or PPS, is a semi-synthetic compound that mimics glycosaminoglycans, and it has been around for more than 60 years. Initially, it was treated to treat blood clots. Now, researchers are looking into how it can be useful for treating other diseases.
The study, which has a total of 12 patients diagnosed with MPS-VI, is examining the use of PPS as a treatment. It is a 2:1 randomized study where patients will be given doses of PPS every week for 24 weeks. The endpoints will be safety, pain reduction, and function improvements.
Dr. Giugliani and is team are hoping to address the symptoms that lessen MPS-VI patients’ quality of life. This initiative has already caught the eye of the medical community around the world, in addition to potential licensing partners.