Sanfilippo Syndrome Clinical Care International Guidelines

These guidelines provide guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. The contents of this document have been reviewed and approved by medical and scientific professionals in the field. The file can be viewed and downloaded by clicking here.

A collaborative effort between Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation initiated and led this project through completion, as well as worked to incorporate the patient perspective throughout the process.

Please share this freely-available document with anyone involved in your child’s care.

The first-ever global consensus clinical care guidelines for Sanfilippo Syndrome have been published.
These guidelines provide guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. Publication in a scientific journal means that the contents of this document have been reviewed and approved by medical and scientific professionals in the field. A collaborative effort between Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation initiated and led this project through completion, as well as worked to incorporate the patient perspective throughout the process. Please share this freely-available document with anyone involved in your child’s care. 

How to get a copy of “Sanfilippo syndrome: consensus guidelines for clinical care”?
You can access and download the guidelines at this link
You can also find information about the guidelines and access the document through Cure Sanfilippo Foundation’s website here

Please help spread information and share this freely-available document

Why are the guidelines so important?
Having a rare disease means that most doctors will not have ever seen a person with your same disease in their career. This results in guesswork about how to manage the health of a child with Sanfilippo Syndrome. Establishing consensus among medical professionals on recommended care guidelines is a key step to elevating the care and support for children around the world with Sanfilippo Syndrome. This first-of-its-kind set of consensus recommendations removes the guesswork of which symptoms should be monitored, through which tests, and how frequently, while acknowledging the importance of patient-specific flexibility. 

What is in the guidelines?
The document represents a consensus set of basic clinical care guidelines that are accessible to clinicians and families globally. The guidelines consist of evidence-based, expert-led recommendations for how to approach Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. Topics addressed in the guidelines include: Symptoms that should raise suspicion for the diagnosis of Sanfilippo SyndromeMethods of establishing the diagnosisEvaluating, monitoring and managing neurological, gastrointestinal, airway, musculoskeletal and the many other complications that developSpecial focus on the evaluation of unexplained pain and distressRehabilitative therapiesSupport services  

Who should use the guidelines?
These clinical care guidelines are intended for use by anyone providing medical care, rehabilitative care, or support services for individuals with Sanfilippo Syndrome. Additionally, the guidelines are a practical resource for families to become well-informed advocates and for them to share with their local care team, who may not have previous experience with this rare disease.  

How were the guidelines developed?
The guidelines were established through a multistage process to arrive at consensus recommendations, with input from more than 100 clinicians around the world who have experience in the care of individuals with Sanfilippo Syndrome. The patient perspective was integrated through participation of the collaborating Sanfilippo advocacy organizations. 

This multistage process included:
– Review of existing publications and gap analysis
– Draft guidance statements: Guideline Development Group and Steering Committee
– Two rounds of online survey to garner consensus
– Final guidance statements that reached consensus were formulated into a manuscript
– Submission of manuscript to journal for peer-review
– Acceptance and publication of the manuscript titled, “Sanfilippo syndrome: consensus guidelines for clinical care”  

What are the next steps?
Cure Sanfilippo Foundation (USA) and Sanfilippo Children’s Foundation (Australia), in collaboration with international Sanfilippo Syndrome organizations, are developing a streamlined version of the guidelines for easy reference and access in multiple languages.  “Access to clinical care guidelines will be an equalizing factor in the standard of care for individuals with Sanfilippo syndrome around the world,” said Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation. “We are thrilled to share the culmination of this effort, which developed consensus-based care guidance from a multi-national perspective, with everyone who seeks to provide the best care for children with Sanfilippo Syndrome.”
Thank you to the many amazing individuals and organizations that contributed to creation of these clinical care guidelines for Sanfilippo Syndrome. 

Thank you to the members of the Clinical Guidelines Steering Committee: Nicole Muschol, MD, of University of Hamburg (Germany); Roberto Guigliani, MD, PhD, of Federal University of Rio Grande do Sul (Brazil); Simon Jones, MD, PhD, of University of Manchester (United Kingdom); Joseph Muenzer, MD, PhD, of University of North Carolina (USA); Nicholas Smith, MD, University of Adelaide (Australia); Chet Whitley, MD, PhD, University of Minnesota (USA); Megan Donnell, Sanfilippo Children’s Foundation (Australia); Elise Drake, PhD, of Cure Sanfilippo Foundation (USA); Kristina Elvidge, PhD, of Sanfilippo Children’s Foundation (Australia); Lisa Melton, PhD, of Sanfilippo Children’s Foundation (Australia); and Cara O’Neill, MD, of Cure Sanfilippo Foundation (USA). 

Also thank you to the many experts who contributed as part of the Guideline Development group and those who participated in consensus building surveys. 

Thank you to Global Genes, BioMarin Pharmaceutical Inc., Cure Sanfilippo Foundation, and Sanfilippo Children’s Foundation for providing funding to develop these consensus guidelines. 

Thank you to Jonathan Morton, PhD, and Ben Drever, PhD, of Comradis Limited (United Kingdom) for their medical writing support.

Cure Sanfilippo Foundation | PO BOX 6901, Columbia, SC 29260

Dr. Michael Beck, Mainz GE, MPS-focused physician has passed

September , 2022: It is with great sadness that we share, Dr. Michael Beck, based in Mainz GE passed away suddenly yesterday. Carmen Kunkel from the German MPS Society reached out to me earlier this morning. Dr. Beck has served the MPS Community of GE and abroad for over four decades. He retired from the Children’s Hospital in Mainz, GE. Most recently, many of you may have met Dr. Beck at our 2018 International Symposium, as he presented on the topic: Management II – Next Generation Treatments/Combination Therapies and Advancing Clinical Trials during the Science Sessions. In  2012, Dr. Beck was honored at the Netherlands conference with the Life for MPS Award in 2012.

Terri L. Klein, MPA
President and CEO
National MPS Society, USA

Passing of Patient/Advocate Erica Thiel

Our beloved friend Erica Thiel passed away recently on Saturday, January 8.  Erica was born on March 5, 1983, and was diagnosed with MPS I (Scheie Syndrome) in 2004 at the age of 21. She was such an inspiration and extremely helpful to many in the MPS community, through her tireless volunteer work in both family support and advocacy.

Throughout the years, Erica attended many WORLDSymposium Conferences, both in San Diego and Orlando.  At WORLDSymposium, she diligently attended medical and pharmaceutical presentations about novel treatments and trial updates. She studied the poster presentations, and met with top researchers and doctors including Dr. Chet Whitley, Dr. Jeanine Jarnes, Dr. Linda Polgreen, Dr. Elsa Shapiro, Dr. Emil Kakkis, Dr. Julie Eisengart, and so many more, actively learning all she could about her disease in a quest to educate and help others.

Erica was always available to speak with others within the MPS community, willing to offer advice and guidance to both patients and their families. She spoke at “Orphan Disease Day at NIH” (link here , Eric’s presentation begins at 1:05:05 which is 1 hour, 5 minutes into the video) from the platform in Bethesda, MD, about a patients view of the future of gene editing as a promising new potential treatment. She also was a strong advocate for better treatments for MPS in general, and specifically for adults living with the condition . She did all of this despite suffering from this debilitating condition herself, and would work tirelessly from her hospital bed to improve the lives of others.

Erica was a devoted daughter, sister, aunt, and friend. She had an engaging personality, and enriched the lives of all with whom she met. She was a long-time member of the U.S. MPS Society’s Adult Resource Center, and volunteered her time and efforts to Gene Spotlight, a non-profit dedicated to funding research and trials towards better treatments for rare diseases.  We thank Erica for all she did for the rare disease community, and will miss her dearly.

– Jennifer Thiel

Lysogene awarded Innovation Passport by the UK MHRA for the GM1-gangliosidosis program

Paris, France — 20 December 2021 at 08:00 am CET — Lysogene (FR0013233475 – LYS), a phase 3 gene therapy platform Company targeting central nervous system (CNS) diseases, announced today that the Medicines and Healthcare products Regulatory Agency (MHRA) has awarded LYS-GM101 investigational gene therapy an ‘Innovation Passport’ for the treatment of GM1-gangliosidosis under the United Kingdom’s (UK) Innovative Licensing and Access Pathway (ILAP). The decision was made by the ILAP Steering Group, which is comprised of representatives from MHRA, National Institute for Health and Care Excellence (NICE), Scottish Medicines Consortium (SMC), All Wales Therapeutics and Toxicology Centre (AWTTC) and representatives from the ILAP Patient and Public Reference Group. The Innovation Passport is the entry point to ILAP, designed to accelerate the development and access to promising medicines in the UK, thereby facilitating and improving patient access to new medicines.

Gaucher Awareness Video Premiere

The Gaucher Community Alliance is premiering its new video campaign to raise awareness about Gaucher disease during October’s Gaucher Awareness Month. The video shows the world the many ages, faces, ethnicities, languages and cultures it affects and will help medical professionals and people affected by Gaucher recognize symptoms.

Join us for the premiere online, hosted live by Adam Rose, fellow Gaucher patient, actor and TikTok star, and featuring Gaucher patients from around the world. The first 100 people to RSVP by September 1 will receive a special gift to enjoy during the premiere.

RSVP here:
Saturday, October 2, 2021
7:00 pm Eastern Time
(6pm Central, 5pm Mountain, 4pm Pacific)

One-year fellowship in Lysosomal Storage Diseases as a Health Sciences Clinical Instructor – apply at the University of California

The Division of Genetics and Genomic Medicine, Department of Pediatrics at the University of California, Irvine School of Medicine is offering a one-year fellowship program in Lysosomal Storage Diseases as a Health Sciences Clinical Instructor

The Fellowship program is designed to provide extensive training in the recognition, natural history, diagnosis, testing strategies, treatment, and management of lysosomal storage diseases (LSDs) and the co-morbidities.

The Fellowship is designed to provide extensive clinical training as well as opportunities for research and teaching in LSDs in a dynamic, fast paced setting. The trainee will complete 12 months of fellowship which includes approximately 50% in clinical training related to LSDs/inborn errors, and 50% in research activities. The trainee will receive guidance in designing, IRB requirements, good clinical practice and collecting data for a research project focused on an LSD Additionally the trainee will prepare a manuscript to a peer reviewed and present the research findings at the genetics conference, Lysosomal diseases WORLD meeting, Translational Science Day, and other conferences.

Minimum Requirements:
Candidates may include physicians or genetic counselors with an interest in metabolic disorder. Counselors may be board-certified or eligible for certification in Genetic counseling

Please contact Virginia Kimonis or +19492667946 for details



Document requirements

Reference requirements

  • 2-4 required (contact information only)

National MPS Society 2021 Research Grant: Now accepting submissions

MPS Society grants Cycle II now open for submission of Letters of Intent (LOI) due July 15, 2021

To access the National MPS Society’s Grant Submission Portal, please use the following link:

Here is more information about the MPS Society’s grants program.


The Lysosomal Disease Network (LDN), a consortium organized under the NIH Rare Diseases Clinical Research Network program, aims to improve the treatment of lysosomal diseases by learning more about each of these conditions by funding a variety of projects including 1-year pilot studies. LDN intends to fund 1-2 pilot projects, on an overlapping annual basis, that promote innovative research at the forefront of new therapies/technologies/advancements for lysosomal disease. Pilot studies must be clinical in nature (either through the use of human subjects or human specimens) and push forward the overarching themes of the LDN: advances in clinical trial readiness, newborn screening, long-term outcomes, and global reach.

Complete application information and dates can be found here.

Fellowships of the Lysosomal Disease Network (LDN) for Career Enhancement

Utilizing NIH funding, the Lysosomal Disease Network provides $50,000-$75,000 total costs (direct and indirect costs) to a post-doctoral level researcher with an interest in a career in lysosomal diseases.  The Fellowship is for one year, coinciding with the NIH funding cycle (August 1st to July 31st). The LDN Fellowship can support currently-ongoing research projects, as well as new research projects. The projects are required to be of a clinical nature, working with human subjects or human tissues; they cannot be non-human medical research.

Complete fellowship application instructions and dates can be found here.

Family feedback from WORLDSymposium 2021!

Dear Dr. Whitley and WORLDSymposium team,

I wanted to share some lovely feedback with you all regarding the ability for families to attend the meeting virtually this year free of charge … though we’d all prefer to be together in person, this is such a great opportunity to learn how we can increase access for patients and families to the amazing science routinely shared at the WORLDSymposium. Thanks for all you do!”
(Cara O’Neill, Chief Science Officer Cure Sanfilippo Foundation)

What Patient/Families have to say:

  • This is great and actually really helpful for international families to be able to listen in vs the normal cost of having to fly to the US. Hope they keep a virtual attendee option in future for patients and families at least.
  • Amazing opportunity for international patients/families.
  • … it’s not just the cost but also the practicality of leaving a child/ children behind (including those with challenges such as Sanfilippo to attend – we needed to be away for 5 days at least from the UK to be able to see the core conference material).  It wasn’t something I would choose to do ideally…We felt it was an essential thing to do as a newly diagnosed family considering trial options to get access to the latest information and ask questions directly to experts in poster sessions. It was invaluable for us.
  • We are in Australia. I have 2 children with attenuated Sanfilippo type A (as well as a newborn). Attending would be a near impossibility for our family. Both the cost and difficulty travelling that far (13 hours just to get to LAX). 
  • I am very grateful indeed for the free registration for family members! We live in Spain and it would have been almost impossible for us to attend the congress otherwise.”