A message from an American MPS family:
Our son has MPS III C, recently diagnosed, and we recently joined the US MPS society. As we learn more about this disorder, we have discovered that it is one of only three lysosomal storage disorders for which the location of the causal gene is still unknown. We also have learned that no one currently is doing research on this particular subtype of Sanfilippo syndrome to discover the gene location. It appears that the first step toward being able to accomplish that is the existence of a registry of all currently known cases of Sanfilippo C. We do not believe such a registry exist in the US, either through the MPS society, or through anyone else such as the NIH, or some institution doing MPS research, however we are making inquiries to confirm this.
Does such a registry exist in Australia through the MPS society or through the National Health Service? It appears from Australia data that the incidence of the MPS III C is so low (approximately 1 case in 1.5 million live births, compared to a combined incidence for all types of MPS at approximately 1 in 25,000 live births), that forming a registry from any single country may be a futile exercise as the number of existing cases in any one country may be only a very few. However a global registry may show some possibility.