Research for New Therapy for Gaucher Disease Leaves Scientists Feeling Hopeful

There are fifty genetic diseases that can be characterized as lysosomal storage diseases (LSDs). Gaucher disease can be characterized as such. LSDs make up about one in every 8,000 births each year, and present a challenge for healthcare providers and patients. Learn more about Gaucher disease here.

Currently, the therapies used to treat LSDs focus on breaking down or preventing fatty molecules from gathering and clogging cells. The accumulation of these fatty molecules can cause cells and organs to be damaged or to break down, and can even lead to a patient’s death. Therapies usually involve enzyme replacement. These therapies however, do not deal with all aspects of Gaucher including inflammation, increased risk of some cancers, bone problems and an apparent increased risk of Parkinson’s disease, most notable in carriers. There remains a strong need for finding new treatments.

In February of 2017, a research team did a study with mice to find new therapies that may be safer and more effective for patients. The study was conducted with mice with lysosomal storage disease. The researchers also used volunteer blood samples from people who have Gaucher disease.

The Past

In the past, researchers had already discovered that C5aR1 is critical to the molecular pathway that contributes to the inflammation in Gaucher disease. In diseased mice, researchers found abundant levels of active C5aR1, which contributed to their theory.

The Experiment

The experiment was conducted with an international crew of researchers and scientists including Cincinnati Children’s Hospital Medical Center and investigators from the University of Lübeck in Germany.

Knowing the importance of C5aR1’s in the Gaucher disease process, researchers tested the molecule in the lab with mouse models. Scientists decided to inject C5aRA into mice. C5aRA, which was made by Kohl, acts as an antagonist to C5aR1.  The findings were very promising.

The report stated that the number of pro-inflammatory immune cells was greatly reduced in the liver, lungs, and the spleen of the mice. Also, glucosylceramide accumulation was almost completely eliminated and the overall disease burden was greatly reduced as well.

Right now, things are looking promising for the study. However, because the test was done on mice, more research and study is necessary before it can be decided if C5aR1 is effective enough to be used on human patients with Gaucher disease.

Learn more about this research here.


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