JJB has come a long way since this interview aired in 2010.  We have found enough patients to participate in our Natural History Study for MPS IIIC, however since this interview, JJB has been compelled to initiate the research into MPS IIID as well. Our friends at the Lysosomal Disease Network (LDN) have included our NHS into their grant from the Rare Disease Clinical Research Network (RDCRN) a program of NCATS. The LDN has lead numerous Natural History Studies of lysosomal diseases, including Shire Pharmaceutical’s sponsored NHS for MPS IIIA and MPS IIIB. Shire has generously given JJB the permission to use the same protocol used for the NHS of MPS IIIA and MPS IIIB. This collaboration will allow our investigators to seamlessly study the differences between MPSIIIA-D and would not be happening without the voice of the parents.

With the generous donations made to Jonny Lee Miller’s crowdrise campaign (http://bit.ly/NYCultra4JJB), we are able to provide the seed funding to begin our NHS. Enrollment will begin Fall 2015.

Natural History Study (NHS)

A NHS is a study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. In the near future, therapies will be available to treat Sanfilippo Syndrome type C and D. It is of utmost importance to characterize the disease process, understand the variability in presentation and describe early markers of disease progression. Additionally, markers of disease progression such as immune changes, brain imaging findings and biomarkers can be described.

Dr. Paul Levy of the Children’s Hospital of Montefiore is the lead Primary Investigator for the upcoming Natural History Study for Sanfilippo type C and D. The purpose is to evaluate the course of disease progression in MPS IIIC and MPS IIID patients to identify potential surrogate endpoints that may be utilized in future clinical trials. Defined assessments include: standardized clinical, biochemical, neurocognitive, behavioral, developmental, and imaging measures.

We look forward to begin enrolling MPSIII C and D patients in the fall of 2015. In the meantime if you are interested in participating please contact: Jill Wood at jill@jonahsjustbegun.org or Dr. Paul Levy at PLEVY@montefiore.org We highly recommend adding your child to the global Sanfilippo Patient Registry https://connect.patientcrossroads.org/?org=SanfilippoRegistry .