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Wednesday, December 14, 2011


My trip to Geneva for the Swiss Sanfilippo Foundations MPS/Sanfilippo conference was a great success.

The most rest I get is on a 7 hour flight. I read, take notes, watch movies and relax. Maybe I should travel more, but I always get so home sick. The second I land in a different country I can’t wait to get home and see Jonah. Just a few days away feels like a month.

The amount of studying, listening and asking questions. Conversation, translating, networking, meeting new people, putting faces with names and science. Heavy emotions and major decision making. It is exhausting and even though “we” i.e. my parents and scientists accomplish so much in just a few days of face time. I still never feel that sense of accomplishment. These trips always open up more doors that lead to more and more work to do.



Raquel and I realized that we both didn’t even bring a camera. Coming all the way to Geneva, one of the most beautiful (and expensive) cities in the world and neither one of us took a single picture. It’s all business. It would be so much more gratifying if it wasn’t for our kids. If it wasn’t so personal this job would be the most rewarding job in the world.

I wasn’t going to come to Geneva, we had just been to the UK in June, where almost all the same players were at. Now I realize that our trip to the UK tipped off scientists that never knew we existed. By we I mean a group of committed Sanfilippo parents dedicated to driving research for our children. Our group opened the eyes of a major lab that will hopefully help change all of our lives.

In the UK our dinner table was assigned seating, the one scientist left at the conference that I had never had the opportunity to have a face to face with was assigned to our Sanfilippo parent table. Alessandro Fraldi, is Italian, his English isn’t fluent. Alessandro at the time was a post doc for a world renowned scientist, Andrea Ballabio. Andrea works out of two labs one at Baylord College and the other in Italy at TGIM. Both highly reputable labs. Our group was desperate to hear more about the latest discovery called CLEAR or TFEB, that this Italian group had discovered. When Alessandro pulled up a chair at our table, the parents pounced on him. The music was really loud and we were having a hard time communicating. But the connection was made and we had several follow up emails. From that the Italian group learned about the Sanfilippo foundation’s from Canada, Europe and America.

The TFEB discovery was made by another post doc working under Andrea, Marco Sardiello. Marco after finishing his post doc work with Andrea took a position at Baylor college where he continued to work at his discovery. Team Sanfilippo and Beyond Batten foundations helped fund his work. Batten disease is another hideous Lysosomal Storage Disease.

After learning of our Sanfilippo foundations, Andrea sent our groups a proposal of his work on TFEB. Team Sanfilippo opted to fund a specific portion of Andreas proposal, while continuing to support his protégée’s work Sardiello.

JJB’s funding is tied up in our type C gene therapy project. I really wanted to see Andreas’s entire work funded. The day before my departure to Geneva, I got word from our friends at Life for Elisa, a.k.a. SCRF out of Canada. SCRF had chosen to fund Ballabio’s project. Phew.

Meanwhile I set up an appointment with a member of Andrea’s lab, Graciana. Our group of parents compiled a ton of questions that we had on TFEB and his x-post doc.‘s Fraldi’s new project. Graciana was kind enough to sit with a dozen Sanfilippo parents and our peer advisors for two hours and answered all of our questions that we had on the two different projects. This is why we go to these conferences. You just can’t get that detailed level of explanation over an email. Calling to Europe is complicated, then the language barrier, forget about it. Graciana spoke fluent English, Italian and Spanish. We had two French translators on hand as well.

Much of the research projects that have been proposed to us over the past 6mo have been translatable to all types of Sanfilippo and potentially several other LSD’s. Which is really exciting on many levels. More diseases will be treated and secondly it helps bridge the gap between A,B,C and D science.

Many parents are waiting for me to give a break down of the science discussed at the conference. I have to stop chit chatting and give a breakdown of the science. Parents excuse me if I make any mistakes, I’m tired and trying to go as fast as I can.

Brian Bigger: Spoke about his findings on genistein on B mice. They found a 33% reduction of HS storage in the mice brains and their behavior were significantly improved for type B mice. He also touched on his work on lentiviral enhanced HSCT (haematopoietic stem cell transplant) on type A mice. He’s seeing an increase in enzyme levels in the brain and a correction in behavior as well.

Brian is the lead PI (principal investigator) of type C’s gene therapy, a collaboration with Alexey. Brian will soon have our mouse propagated in Manchester. Hopefully at some point we can test genistein on our mouse too. Brian is getting closer and closer to getting a genistein trial funded in Europe. The open study that Barbara Burton is doing in the US has given his lab a lot of useful data. Brian's work with genistein and the two part therapy of HSCT and lentivirus are in need of continued funding. The HSCT-enhanced lentivirus can be translated to type B as well.

Karen Aiach: Is the French mother of a type A child. Her daughter received a miraculous diagnosis at 10 months of age. Much like Jonah her pediatrician, called out an abnormal feature. Her daughter had an enlarged pancreas at birth. After it didn’t go down they did some diagnostic testing.... 5 months later they got a diagnosis. You think I hit the ground running, you should meet this dynamic mom. She is fierce. Within five years karen created her own foundation, and biotech called Lysogene and went to clinical trial! Her gene therapy trial started in September. Her daughter was the first to be injected with the viral vector SAF-301. There will three more children to follow in the phase I/II trial. Karen is bound to not discuss the details of the trial. But she did show me pictures of her daughter outside playing just a few months after the procedure. So I think we can all take that as good news. After Karen spoke her scientist Serge Braun followed up with more data on AAV’s for type A and B. Serge works with O. Danos and J.M. Heard. It’s a partnership/collaboration with French companies at the Pasteur Institute and the biotechnology company AMT. It gets confusing, there are a bunch of people involved in the French led type A and B gene therapy. Collaboration is key!

Haiyan Fu: Presented her data on the type B gene therapy that she has been working on. She too is getting closer to clinical trial, but needs more funding (the story of our life.) Haiyan reported that the enzyme level in the mice brains had risen two fold, meaning it has breached the blood brain barrier. She is seeing that the mice are living much longer after treatment with significant improvement of cognitive and motor function. Dr. Fu was followed by her partner and husband Dr. Douglas McCarty. Doug makes the viral vectors and Fu figures out how to get them into the body. From Doug we heard about his vectors.

On a side note, this team was very interested to hear that JJB and Company had started work on our gene therapy with Brian. The scientists talked and it sounds like we may have another vector to test on our mouse. The more the merrier.

Patrick Haslett: The man of the hour. Patrick works for Shire and presented Elsa’s findings on type A’s NHS (Natural History Study.) This was the first time the study had been presented. Not all the findings are available yet. I think the most interesting finding was the age difference of onset. There was a particular group of kids that were not diagnosed until after the age of 6. These kids didn’t fall into the average progression of the disease. Possibly a milder phenotype based on mutation....

The importance of the NHS for the scientist is immeasurable. You have to remember the scientists don’t see the children in person. The comprehensive data gained from a NHS gives much insight into the disease that a scientist wouldn’t otherwise have. A NHS also helps focus on treatment options and trial endpoints. Plus it gives us the basic understanding and the progression of the disease.

Patrick was one of the people I was highly interested in having a conversation with. As you all know type C doesn’t have a Natural History Study and I have been desperate to get one underway. But at the cost of over half a million bucks.... Meanwhile we have a half a million worth of science to fund. It’s hard to make a choice, something has to give. Anyhow, Patrick had some “off the record” optimistic advice about our dilemma. But it’s off the record, so time will tell.

Robin Jackman: President of Zacharon Pharmaceuticals. Since Zacharon has gone into partnership with Pfizer the SOT that Zacharon has been working on feels like it’s at a stand still. We no longer here anything about the impending trial. All we here is: “We’re working as fast as we can.” So after listening to the same presentation I have heard for the past year and a half. I got frustrated, we all want details. When they took questions. I spoke for the entire group of Sanfilippo parents in the know.

I put Robin on the spot. I told him just how I felt. I said we’ve been looking at these same set of slides for the past year and a half and our Sanfilippo parents only have one question. “When will we be going to trial?” His response: “I can’t answer that, we’re working as hard as we can.” I asked for a ball park figure... again “I don’t know.” I then asked him: “so what’s holding you up?” His response: “well nothing there is no hold up.” I asked him: “What were they doing then?” He tried to come up with a response and said: “Well there was still the IND and FDA meetings to be had....” I dropped it, before it got really ugly and just said: “thanks.”

He happened to be sitting behind me, he came back up to his seat, I’m sure he sat and watched me cry. He caught me a few more times during the conference and tried to appease me. I told him that he had to know that our parents have hung our hat’s on their SOT, that this is the closest thing we had to a treatment for our kids, everything else was years away. He acted surprised and flattered. I was tearful, I could barely even talk to him. Luckily I had an appointment and broke away. Later he tried to make up again, I figured it was in my families interest to play nice. So I changed the subject and we talked about newborn screening instead.

I skipped the next 7 speakers to meet with our parents, advisers and researchers. We made it back just in time for Alexey to give his presentation. We lost track of time and Alexey almost missed his own presentation.

Alexey Pshezhetsky: Discussed our mouse model. I’ll skip discussing the sad video and discussion on a mouse that has the same disease as my son. :( At the end of his presentation our logo was proudly displayed as one of his funders. :)


Thursday night, our first day was just a half day, we checked in, registered for the conference and listened to the introductory speakers. Then a large group of Sanfilippo parents and Alexey went out to dinner. At the end of the very late evening we were standing outside waiting for Taxis. My Mom’s got in a car ahead of me and I was left with the group of European Dad’s and Alexey. I was just standing there waiting for the Taxi, when this young college kid came up to me and started talking to me in French. He was a bit drunk. I figured he wanted directions I told him in English that I don’t speak French and suggested that he ask my French speaking associate. The college kid gave me a weird look and blushed. I figured it was because he had mistaken me for a local. You can all probably guess by now what he mistook me for?! He ended up asking my friend where the nearest brothel was, thinking that he was my pimp. I was mortified, when I caught on to what he was saying. Even worse Alexey was the only other person in our group that spoke French and understood what the guy was asking for. Ugh

Daniel Grinberg: Presented our type C Neuronal cell model. This is a model that can be used along side a mouse model, it’s made from human fibroblasts (type C kids skin samples my French and Spanish associates skin to be exact.) We can use this model to test therapies against, there is data that you can’t get from a mouse model and vise versa. He also touched on our work with stop codon mutations and splicsite mutations.

Marco Sardiello: He explained the process of TFEB (Marco discovered TFEB under Andrea’s supervision, to describe it simply: TFEB is a master gene that can be triggered pharmacologically which in turn will help clear out the accumulation of substrate in the lysosome.) He discussed “sucrose” as being the molecule used to trigger TFEB. But he is also searching and researching other molecules that will trigger TFEB.

Researchers often use vast drug libraries to find molecules suitable for their theory. These libraries are just what it sounds like, a stock pile of different molecules ranging from drugs like genistein to sophisticated drugs. Some of these molecules are FDA approved and some are not. If we find an FDA approved molecule to do the trick for Sanfilippo research, we could “repurpose” an FDA approved drug and give it to our kids in a more timely manner.

Much of Marco’s presentation focused on Batten disease. He mentioned that it would work with other LSD’s and touched on his work with Sanfilippo. His presentation left us with more questions then answers. At break time the Sanfilippo parents ambushed him and grilled him for more answers. Needless to say, I’m glad that CSRF is going to fund Andreas TFEB research.

Marco’s research is going to trial soon with Batten disease and he was just awarded a grant for his work from the March of Dimes.

The lectures that I missed or haven’t recapped on were either about other LSD/MPS’s or were presentations by organizations that supported research. Not that they weren’t all important to us... Just don’t have the time to comment or listen to everything.

Overall the conference was very productive for all parties involved. The presence of Sanfilippo parents was amazing. There was a lot of attention paid to the different gene therapies going on around the world for Sanfilippo and it was heavy on genistein information. These speakers are not all the researchers studying Sanfilippo there are lots more. Most of them aren’t ready to present their work. By this time next year our active science will have doubled.

I highly encourage parents to participate in these conferences. Hear the science for yourselves, come to your own conclusions. Most of our science is years away, it may not be here in time for our kids. I think it’s important to look at all the science, determine the best science and don’t put all your eggs in one basket. We won’t get our cure from just one treatment it’s going to take multiple approaches. So while searching for the quick fix look to the future and set the next generation of Sanfilippo kids up, for a brighter future. The next big conference will be in San Diego, February 8th-10th. WORLD is an LDN (lysosomal disease network) conference focused on LSD (lysosomal storage disease) www.LysosomalDiseaseNetwork.org or www.cme.umn.edu/world2012