As 2022 draws to a close we take a look at the year’s highlights and look forward to what next year might bring.
This year has been bookended by two major achievements for the Sanfilippo community, with the launch of The Global Roadmap for Sanfilippo Syndrome Therapies at the beginning of the year, and the Sanfilippo Clinical Care Guidelines released in November. These two major works set the scene for more rapid and efficient progress in research and better care and quality of life for families. We look forward to working with our international partner Sanfilippo organisations to progress the goals of the Roadmap in 2023.
Researchers have connected throughout the year, both in person and virtually, to share knowledge and build collaborations. In particular, we were thrilled to be able to host the 2022 Solving Sanfilippo Symposium in Adelaide and online in April, bringing together over 50 researchers, clinicians, and family members.
We were delighted to be able to fund two new projects that started in 2022, co-funded by our wonderful international Sanfilippo partner organisations. One project will identify much-needed biomarkers for Sanfilippo disease severity and progression, and another is investigating a secondary enzyme deficiency. We look forward to sharing the outcome of our 2022 grant round with you very soon.
The year has also seen encouraging updates from researchers and biotech companies around the world, with new models developed to study Sanfilippo, type C and type D and encouraging clinical trial updates on Allievex’s enzyme replacement therapy for type B, Lysogene’s gene therapy for type A and Orchard’s cell and gene therapy for type A. We were also pleased to see the future of the Abeona type A gene therapy program secured with Ultragenyx taking over the completion of the trial, and JCR Pharmaceuticals also made progress towards clinical trials for their Sanfilippo type A ERT drug candidate JR-441.
The emerging trial data emphasise the need for early diagnosis and newborn bloodspot screening for Sanfilippo, and 2023 will see our continued advocacy for this.
We celebrated the achievements of Australian Sanfilippo researchers, including Dr Karissa Barthelson securing a prestigious ‘Race Against Dementia – Dementia Australia Research Foundation Postdoctoral Fellowship’, and Prof. Kim Hemsley and Dr Adeline Lau marking their 20 years of shared research progress!
We are also delighted to have welcomed two energetic new members to our team—CEO Kerren Hosking, and our volunteer Family Ambassador, Jillian O’Grady.
Reflecting on the year, Jillian O’Grady said, “The release of the Roadmap is particularly exciting as it provides clear end goals for researchers, not just in terms of a cure, but also treatments to improve quality of life - an area that has been somewhat overlooked in the past. Researchers can utilise this important document to focus their efforts on what is truly important to families. Also, the positive results from ERT and gene therapy trials are reasons to celebrate, and it is so exciting to see that several studies released this year are inching closer to enrolling patients in new clinical trials."
Most importantly, the year would not have been such a success if not for our families and supporters.
In May we had over 1,250 people register for our inaugural 5km a day in May virtual event. Collectively our supporters covered 193,750km - that is 4.8 times around the world. All while raising money and awareness for Sanfilippo syndrome. Such a massive achievement from an amazing group of supporters. We are really excited to see this event grow bigger and better in 2023.
Also, after many postponements, we finally got to meet in person for the first time since 2019 for the Beach2Beach community fun run on Sydney’s Northern Beaches. We had many of our Sanfilippo families and their communities attend, and Sanfilippo Children’s Foundation took first place in the Top Teams Challenge.
Throughout the year we had many wonderful people in our Sanfilippo Community running their own fundraisers. These included plant sales, golf days and birthday Facebook fundraisers. The Steps for Skye challenge also had another great year - they had the largest number of participants yet and raised over $41,000. This brings the total over 3 years to $80,000. We are so grateful to everyone who donated and raised money in 2022. These funds will be used to drive vital research into treatments.
We joined the rare disease community to drive awareness and advocacy through key dates like World Sanfilippo Awareness Day 2022 (Nov 16), MPS Awareness Day (May 15), and Rare Disease Day (Feb 28), and helped Rare Voices Australia celebrate their 10th anniversary at a Parliamentary event in Canberra.
Together, we hope 2023 will continue to bring new connections, insights and progress in Sanfilippo research.
Your gift this Christmas will help ensure the continued progress of research to ultimately give children with Sanfilippo the most precious gift of all - more time.