Sanfilippo syndrome is one of a group of disorders known as mucopolysaccharidoses, or MPS for short. All MPS conditions have in common the accumulation of complex carbohydrate molecules (glycosaminoglycans, GAGs) in cells and progressive damage to cells and tissues in the body. Many body systems are affected in MPS conditions, but some primarily impact the skeleton and joints, while others like Sanfilippo syndrome (MPS III) have the greatest impact on the brain. All of the MPS conditions have an enormous impact on quality of life for individuals and their families.
In April 2024, MPS researchers, clinicians, patients, families and industry from around the world came together in Würzburg, Germany for the 17th International Symposium on MPS and Related Diseases to share knowledge, discoveries and experiences and connect with each other for support and solidarity.
Sanfilippo Children’s Foundation CEO, Kerren Hosking, and Head of Research, Lisa Melton, joined the conference and were delighted to meet with colleagues from the International Sanfilippo Syndrome Alliance (ISSA).
We were able to take the opportunity to convene a side-meeting of stakeholders with an interest in Sanfilippo syndrome, to introduce them to the work of ISSA. The meeting attracted a large group of families, clinicians, researchers and industry professionals. We provided an overview of the Alliance’s work to date, our driving principles and the Global Roadmap for Sanfilippo Syndrome Therapies. We were also able to present and discuss the initial findings of our scoping project to determine the feasibility of establishing a platform to collect clinical and patient data. This excellent discussion will help inform our way forward with this important initiative that could significantly enable further robust research into Sanfilippo.
Amongst the scientific and medical updates heard at the conference were clinical trial updates, similar to those presented at WORLDsymposium in February 2024 (read our update here). The role of different aspects of MPS symptoms on sleep, such as obstructive sleep apnoea and restlessness potentially related to a deficiency of iron and/or inflammation in the brain were also presented. Dr Julie Eisengart discussed the impact of other body symptoms on the ability of children with neuronopathic (affecting the brain) forms of MPS to complete the neurocognitive tests necessary for clinical trials. Factors such as eyes, hearing, bone and joint pain, and emotional responses relating to previous medical procedures and experiences can all affect a child's physical, emotional and behavioural ability to engage with and complete tasks.
Dr Cara O’Neill presented on the development of the Consensus Guidelines for Sanfilippo Syndrome Clinical Care - a crucial resource for clinicians and families alike.
Professor Maurizio Scarpa from Italy led an important discussion on newborn screening for MPS disorders, with an emphasis on increasing the number of conditions screened for in Europe and other regions. Eliminating false positives and ensuring appropriate support for families, particularly for conditions that are yet to have approved therapies, was considered of primary importance.
We heard about the use of exciting new artificial intelligence (AI) approaches being used in the hunt for effective new therapies and in accelerating diagnosis for rare diseases.
Several early career researchers presented their impressive work to further understand the molecular mechanisms underlying pathology and treatment approaches in Sanfilippo syndrome.
With new information absorbed, new connections made, and existing connections strengthened, it was an incredibly productive and worthwhile time that will enhance the ability of Sanfilippo Children’s Foundation and ISSA to drive progress for families.
Pictured: Guilhain Higgonet (Sanfilippo Sud, France), Kerren Hosking (Sanfilippo Children's Foundation), Raquel Marques (Sanfilippo Portugal) and her daughter Sophia and Lisa Melton (Sanfilipopo Children's Foundation).
