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The route to helping flnd treatments for one disease may beneflt by helping research in another disease. We are taking this altruistic approach and recently submitted a winning project proposal for Sanfllippo Syndrome D which will not only beneflt research in this disease but also the other 3 subtypes A, B and C.

Sanfllippo Syndrome is an ultra-rare disease, the clinical symptoms of the disease for all types are broadly similar while the severity and progression timeline between types vary. Type A and B being more generally severe and faster to progress than C and D. There are no FDA approved treatments for any of the subtypes.

Sanfllippo Syndrome subtype D, or Mucopolysaccharidosis III D is an autosomal recessive lysosomal storage disease caused by the deflciency of the enzyme N-acetylglucosamine-G-sulfate sulfatase which is needed to break down the glycosaminoglycan heparan sulfate. Sanfllippo children look normal at birth but those with type C or D commonly live into their late twenties early thirties.

There are several academic research projects ongoing for Sanfllippo types: A, B and C as well as two ongoing clinical trials for Subtype A. Basic research and understanding of type D is in its infancy which is clear from the paucity of publications mentioning it (97 currently in PubMed compared to types A (642), B (117) and C (65)). Also, while there are mouse models for Sanfllippo types: A, B and C, there is currently no mouse model for type D.

We think that out of the 4 types of Sanfllippo, type D is in the best position for an effective treatment. Type D is also a relatively mild form of the disease compared t o Types A, B and C. It is hypothesized that with just a small increase in enzymatic activity, the disease could be drastically improved. A mouse model of the disease and a better understanding of the brain pathology of the disease, will assist us in developing a treatment .

It is JJB’s aim to champion Type D research (alongside that of Type C), using our consortium of investigators to test treatments that we are already funding for type Cand translate them and test them for type D.

In December we entered our proposal in the ”BeHeard rare disease challenge‘ (http:/ / rare-disease-challenge/ ) run by Assay Depot (https:/ / ) and the Rare Genomics Institute (http:/ / ) (http:/ / to generate a Knock out (KO) mouse for Type D.

Earlier this year we learned that we were successful and had won the KO mouse development prize! The press release came out recently from Taconic who will kindly develop the mouse and donate it to us (see http:/ / news/ taconic-initiates-custom-model-generation-143955093.html). The mouse model for Type D will be colonized in one of the flve labs that JJB is working with and cellular lines or mice can then be sent to our collaborating scientists (or any other scientists), upon request. Winning this prize also helped our friends at Ben’s Dream (, who were going to fund the development of the mouse initially, now their resources can fund other research. So it could be a double win for Sanfllippo.

JJB believes that we can use the eventual knowledge and research from Type D to help Type C (and vice versa) to enhance Sanfllippo research as a whole. Although this may be several years away as careful characterization of the mouse has to be performed flrst. We are very grateful to Assay Depot, The Rare Genomics Institute and Taconic and all the other vendors involved in providing over $400,000 in reagents, supplies and services for the competition. In particular we are honored that collectively they are giving our ultra-rare disease this opportunity to make scientiflc progress that will one day help our children. We will provide updates on the progress of this research in due course.

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