A web-based MPS VI registry has been established by The Women's and Children's Hospital in Adelaide and BioMarin Pharmaceutical, Inc.
The registry is designed to collect and to provide information to doctors, researchers and patients about the prevalence, natural progression, and range and severity of symptoms in MPS VI. Interested patients can enrol in the registry at https://www.mpsvi.org/Registry/index.cfm See more details in our MPS VI page under MPS Diseases..
A comprehensive history of the Society has now been posted to this site. Please see our History page to see how our Society was commenced and has grown..
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.
Genzyme Corp has set up a new website with information specifically on MPS I. The website is located at www.mps1disease.com.
The site is designed to provide useful information and helpful resources about the disease for both the healthcare professionals as well as for patients and their caregivers. Raising awareness about the disease and its treatments in the MPS community is Genzyme's goal for this website. They hope that you find it to be a valuable resource.
At their other new website www.Aldurazyme.com, Genzyme have set up a feature that allows visitors to send in contact information of both the medical centers and physicians (email) with experience in treating MPSI disease across Australia.
MPS Australia provides this information purely for its members and readers of this site to provide you with the opportunity to decide if you are interested in correspondence with Genzyme. If so, please visit the Aldurazume website. MPS Australia is not able to answer any queries about this project..