Can you believe we are in June? I'm sure you've been busy so far this year, and we have too. First, thank you for all your support, from the new followers and donors, to those who have been with us since the beginning in 2013. Below is an update on the past few months. Read to the bottom for some incredible stories. The Families: Our Foundation continues to grow as more children are being diagnosed with Sanfilippo Syndrome. These inspiring and amazing families are jumping in the fight, realizing quickly that TIME is of the essence. Some of these beautiful children include sisters Alexa & Lacey, Liv, Jacob, Zoe, Everett, Maddie, and Fiona, and you can read their stories at the Meet the Families section of our website. Despite the most devastating news, & the most trying of circumstances, these families and supporters are making a difference! Equally inspiring are the families that have been living the "Sanfilippo life" for years & have braved the toughest times...sometimes even the loss of a child, yet continue to advocate and fight. We are ALL family and we truly want no one else to live through what we have. That is what drives Cure Sanfilippo Foundation. I can't go on without acknowledging two precious girls lost to Sanfiippo: Izzy Jurado and Blair Chapin. These families have guided and inspired us as they have worked tirelessly advocating for Sanfilippo for many years. If you remember, Izzy was a star in the Saving Eliza video. Without her family's grace and understanding, that video would not have made the impact it did, raising over $2 Million for research, thanks to you. And Blair Chapin's infectious smile lit up the world. Her family have been incredible advocates fighting for a cure. These girls live with us in all that we do, each and every day. They will never be forgotten, and are angels watching over the children. Research and Clinical trials: Sanfilippo Type A Gene Therapy Program at Nationwide Children’s Hospital has now treated 6 children. Hopeful life-saving treatment, thanks to you! The first 3 children treated were ages 5.7 - 7.2 and were given the first dose; the minimum effective dose from the pre-clinical research studies, due to safety concerns. The second 3 children treated were ages 2-4 and were given the second dose; the high dose (double the amount of the low dose). There have been no safety concerns reported. Results on possible efficacy are coming in every few months via press releases from the company Abeona, who is working on the trial, along with quotes from the doctors. The most recent update is here, and continues to be optimistic, although still very early on. For now, we continue to be very hopeful that this one-time treatment is having a positive impact in stopping or slowing the disease progression. Sanfilippo Type B gene therapy trial, at the same hospital, has not begun yet. We continue to hear it should be starting soon but no details are being provided. Sanfilippo Type A Enzyme Replacement: In a previous update, we noted that Shire Pharmaceuticals discontinued their Enzyme Replacement program. This was devastating news to families. Our Foundation recently spearheaded an effort to reach out to Shire for consideration to divest the program so that others might have access to valuable data and a possible treatment. Our letter included support and sign on from 21 Foundations in the Sanfilippo and MPS space, covering 11 countries. We've been told the letter has been circulated to the appropriate folks inside the company. To be continued on this... Sanfilippo Type B Enzyme Replacement: This trial, run by Alexion, has also run into some concerns. While initial data was encouraging that there were some positive signs, Alexion released news that they would be suspending further development of the drug. What exactly this means for the families currently receiving the drug is uncertain. Whether these decisions on suspending trials are based solely on science or business, or a mix, we can't say for sure. This is why it is important to have a robust source of non-profit funding to support not only pre-clinical research, but clinical trials as well. Sanfilippo Type B Enzyme Replacement: This trial run by Biomarin, is currently treating patients and enrolling, but it's early on and no results on efficacy have been released yet. There are other clinical trials in the planning stages coming from companies like Lysogene, Orchard and a couple of others. Timelines are not defined for these yet. Overall, we are thankful for the various groups interested in Sanfiippo, but press on for more. We just won't know if we have effective or partially effective treatment until more clinical trials are tested and completed....and most importantly, more children are treated! Cure Sanfilippo Foundation Research: Thanks to your support, our Foundation continues to fund research to bring more treatments to clinical trial stages as fast as possible for children living with Sanfilippo today. Earlier in the year, we announced 3 new research projects, and will have updates on other projects underway later this year. We are in discussions with several groups on new and exciting opportunities! All of our research projects funded can be found at www.CureSFF.org/grants, and THANK YOU for allowing these to happen. It's your collective dollars at work and with your help, can continue to do so much more! Cure Sanfilippo Foundation non-research projects: Global Clinical Management Guidelines: Thanks to a Global Genes grant which will partially fund this, we are in the process of developing a user-friendly set of management guidelines for healthcare providers around the world, so they will be able to better support our children. We work on this project in collaboration with Sanfilippo Children's Foundation of Australia. In the future, doctors will have a standard set of recommendations for patients regarding Sanfilippo, instead of what exists today...which is little to nothing. Parent Preference Survey: Often, when the FDA evaluates clinical trial protocols, or is at the point to evaluate a drug for market, it can help to understand the patient community's perspective. This survey we are working on will show both risk/benefit as well as what is "meaningful benefit" for a parent. Today, this type of Survey does not exist. We've leaned on some of the best practices in the Muscular Dystrophy community who have helped guide us. This will be a validated and published document for all to access. And now, the Fun Stuff! -- Our annual Sale2Save is on Saturday, June 17th? This is our third year of having National Sales all on one day. The sales can be Garage/Yard, Lemonade, Bake, or any other type of Sale you can think of. We ask supporters if they will have a sale at their house or location on June 17th, to benefit Cure Sanfilippo Foundation. Please let us know if you can set one up, and we will add to our map. We've got 40 sales lined up already on this one day, and you can find more info HERE. A fun and easy way to support, and every bit adds up. -- Cure Sanfilippo Foundation received a very generous $20,000 donation from Ron and Carrie Pollard. Ron is the uncle of Liv Jordan, 3 year old diagnosed with Sanfilippo. The touching story as to what moved them to contribute this amount can be read HERE. Thank you so much Ron and Carrie for one of the largest donations in our history! -- A couple of milestones in fundraising for two families! Spencer Smith family and supporters reached the $150,000 mark earlier this year and are well on their way to $200,000! Carson Burroughs family and supporters blew past $100,000 and are non-stop in their efforts. A BIG THANK YOU to these families. -- Our Birthday Campaigns have raised over $150,000 this year, and more than $1Million to date, thanks to you. We will continue with birthday campaigns for every child, every year, until there is a cure! If you'd like to have a birthday campaign for the Foundation, in lieu of gifts, please let us know at curesff@gmail.com. -- National Coverage! Little Carter Sarkar loves Halloween and trick or treating. He loves it so much that his parents decided to have a neighborhood Trick or Treating in May on his birthday!! The truth is, we don't know how many years we get with our little ones, so why not have two holidays during the year? :) This amazing story was covered by several national news outlets including ABC News HERE. - NEW VIDEO gets 900,000 views: Eliza O'Neill went to Disney World with Keira Esposito. Two 7 year old girls with Sanfilippo enjoying the parks. Well, a magical Disney moment happened and the video tells the rest of the story, and I bet it's not what you expect! You never know just how much a simple kind act might mean to someone. See the VIDEO HERE! These are just some of the incredible updates and stories as families work day and night in an effort to save children. They love and fight for their children, all while making every single moment count. Thank you for your time, your support, and your providing hope for Sanfilippo families. These children need treatments now, not a year from now, due to rapid disease progression. As always, contributions are welcome at www.CureSFF.org/donate. Proud to say we have the best and most loyal supporters. Thank you! Glenn O'Neill - President & Executive Director PS: Our deepest thanks for your support, from all Sanfilippo families
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