Study: Stem Cell Therapy Shows Sign of Efficacy for Gaucher Disease Treatment

Stem cell therapy via intravenous injection lessened symptoms and prolonged survival of Gaucher disease, reports a study using a mouse model.

The study was published in Human Molecular Genetics, and reported in Gaucher Disease News.

What is Gaucher disease?

Gaucher disease is a lysosomal storage disorder in which the activity of the enzyme beta-glucocerebrosidase is incredibly low or non-existent. Beta-glucocerebrosidase is responsible for the breakdown of glucocerebroside, a lipid, into the simpler glucose and ceramide molecules.

If beta-glucocerebrosidase activity is too low (as in the case of Gaucher disease), then glucocerebroside levels accumulate in cells and cause damage to tissues and organs.

Though it is rare, the frequency is higher among those of Ashkenazi (Eastern European) Jewish descent. Among that population, approximately 1 in 450 people has Gaucher disease while 1 in 10 may be carriers of the disease.

To learn more about Gaucher disease, click here.

Stem Cell Therapy

Treatments like enzyme replacement and substrate reduction have shown some efficacy, but not nearly enough to make a lasting impact.

But the idea behind stem cell therapy is to replace cells encoding the defective enzyme in Gaucher with cells that have a healthy version of the gene. For the brain, such therapies would typically require an operation to directly implant the cells in the brain.

Using mouse models, researchers tested the stem cell replacement, showing signs of success. 

Researchers attribute this “reduced sustainability of therapeutic effect” to “the rapidly progressive disease in this mouse model,” and suggest that starting treatment at a younger age, before the disease develops, may increase its benefits.

To read more about the study, click here.

This is great news, especially during Gaucher Awareness Month!


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