There is no cure for Sanfilippo but there is hope. Research to develop improved treatments and to ultimately find a cure is ongoing, and the Isabel Jurado Foundation is committed to supporting this research. This page of our website will be updated periodically as new developments are known. In the meantime, we have listed below some of the treatments that are being developed. It is the sincere hope of The Isabel Jurado Foundation that through this research and with medical treatment this terrible disease can cured in the not too distant future.
Enzyme replacement therapy (ERT)
This involves producing a synthetic form of the missing enzyme. Scientists are working to produce a synthetic form of enzyme for MPSIII that will help rid cells of the waste product.
Scientists use a safe virus to transport the correct genetic information into cells. These viruses are called viral vectors. The viral vector “infects” the cells throughout the body with the missing genetic material thus enabling the cells to produce the enzyme.
This involves transferring healthy cells that do produce the missing enzyme directly into the body. Stem cell transplant is an example of cell therapy.
The substrate is the molecule that the enzyme needs to break down. In the case of MPS, the sugar molecule (muccopolysaccharide also called a gylcosaminogylcan or GAG) is what is causing all the problems. This is the stuff that can’t be broken down in the body and then builds up in the cells. The GAGs are not all bad. We all produce and need GAGs but our bodies can get rid of what we don’t need. In MPS the body cannot get rid of the extra GAGs. So with substrate deprivation a product is introduced into the body to reduce the amount of GAGs made in the first place.
Here is a link to a report on some research that was done on gene therapy for MPSIII.