An urgent need in funding for Sanfilippo is necessary. The National MPS Society teamed up with two other families foundations, to offer a grant in 2008. The organization did not have enough funding in the MPS III category to offer a research grant. We need the community to join together as we strive to raise funds for this important research that may one day will result in a cure for this devastating syndrome.
Various experimental methods have been used to try to replace the missing enzyme, but none so far have had any significant long-term benefit. Bone marrow and stem cell transplants have been tried for Sanfilippo syndrome with disappointing results. The devastating neurological symptoms of this disorder make it challenging, as the enzyme needs to enter the brain to be effective.
Enzyme Replacement Therapy (ERT)
The idea is to produce a synthetic enzyme to replace the missing or deficient enzyme. ERT is currently available for MPS I, MPS II and MPS VI. MPS III involves the central nervous system, the problem remains the crossing of the blood brain barrier (BBB), to allow the enzyme to correct the brain damage that occurs. Investigations into intracerebral injections of the missing enzyme are in progress.
This involves replacing the function of a missing or defective gene with that of a therapeutic gene. Several types of vectors and techniques have been developed for gene transfer. Hopefully, these will be used in clinical trial in the next few years.
Replaces deficient or defective cells with normal cells. The hope is that the grafted cells can then correct the metabolic defects in abnormal cells.
The substrate is the glycosaminoglycans, GAG the the missing or deficient enzyme needs to break down. Substrate deprivation would reduce the amount of GAG that the body produces, therefore reducing the storage. Clinical trials are in progress for several other diseases with neurological involvement.
An isoflavone that has been identified as a substrate inhibitor
Your ongoing support will enable these projects to continue. In the last five years treatments for three of the seven MPS disorders have been realized. Significant knowledge has been gained from these studies and have given the scientists a clearer direction needed for research. Much of this research is being funded by foundations of afflicted families such as ours. The majority of the research is taking place in the United States, Australia, Canada, several European countries and Israel.