The Icahn School of Medicine at Mount Sinai is repurposing pentosan polysulfate sodium — an anti-inflammatory medicine approved as Elmiron for bladder pain — for the treatment of lysosomal storage disorders, possibly to include Gaucher disease.
“By using a drug that is already approved, we should be able to fast-track [pentosan polysulfate sodium] to patients and address an important unmet medical need,” Edward Schuchman, PhD, professor of genetics and genomic sciences at Icahn, said in a press release. “Using one drug for several different lysosomal storage diseases changes the approach currently used for treating these diseases.”
Lysosomal storage disorders are inherited diseases where the cell’s digestive system — the lysosomes — does not work properly, leading to an abnormal buildup of toxic materials in cells.
Researchers will primarily look at lysosomal storage disorders where the body cannot break down long chains of sugar molecules, which accumulate inside the cells, blood, and connective tissue. Collectively known as mucopolysaccharidoses, these diseases affect multiple organs, including the skin, heart, brain, and bones.
However, they believe that other lysosomal storage disorders, such as Gaucher and Fabry diseases, may also benefit from the treatment.
There are 11 subytpes of mucopolysaccharidoses, the most common and severe of which is Sanfilippo disease. These patients face a decline in mental faculties and develop behavioral problems, culminating in dementia and a shortened lifespan.
Currently available therapies for mucopolysaccharidoses include enzyme replacement therapy and blood stem cell transplants. However, these approaches are expensive, highly invasive, and offer limited efficacy — as disease progression is stopped in only some cases.
Preclinical studies by Icahn’s researcher, Calogera Simonaro, PhD, showed that pentosan polysulfate sodium had therapeutic benefits in animal models of mucopolysaccharidoses, improving their mobility and lowering damage to several organs, including the brain.
The therapeutic benefits were linked to the treatment’s anti-inflammatory effects, and were also seen in rat models of Sanfilippo disease.
“Mount Sinai innovators recognized the value of repurposing an existing therapeutic for a new indication,” said Erik Lium, PhD, executive vice president of Mount Sinai Innovation Partners. “We look forward to working with Paradigm and ReqMed to advance pentosan polysulfate sodium for the treatment of [mucopolysaccharidoses].”