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

Registration is open for ADVANCE 2022: Sanfilippo Community Conference!

A virtual conference on July 7-8, bringing together families and caregivers, scientists and researchers, clinicians and therapists, advocates, biotechs, and supporters. All to engage and advance the work to help children with Sanfilippo syndrome. Registration is at no-cost.


Parents and caregivers of children with Sanfilippo syndrome don’t often get to see the many people – researchers, scientists, clinicians, biotechs, and many more – brilliant people working behind the scenes in the efforts to make a difference for children. 

Additionally, many working in the field seldom have the opportunity to spend time directly with the children and families impacted by Sanfilippo to better understand what daily lives are like and to use that knowledge to enhance their work.

ADVANCE 2022 will feature high-level collaboration between the groups, information sharing, and Sanfilippo-specific learning sessions. Topics include the role of inflammation and the immune system in Sanfilippo, new treatment approaches, Sanfilippo subtype-specific sessions, ABA and Sanfilippo, and much more.

Everyone in the Sanfilippo community is welcome, U.S. and internationally. And registration for everyone is at no cost. Register today at

We hope to see you at ADVANCE 2022!

Glenn O’Neill
Dad, Donor, President & Co-Founder
Cure Sanfilippo Foundation
803-413-0525   |


Happy summer to all! We first want to thank everyone for their patience and understanding as our team finalizes details for the upcoming 2022 Pediatric Pompe Patient Meeting to be held in person August 5-6, 2022. Please read this in its entirety for important information about the meeting. If you still would like to register for the meeting, please do so here:

  1. Virtual Option: As of right now, the meeting is expected to be held fully in person at the Sheraton in Durham, NC. Our team is actively working on ways to livestream this event to create a virtual way to watch the conference. Please note that the virtual component will probably NOT be on the same platform as in recent years and may not be available live. We will provide information on the virtual option when/if it becomes available.
  2. Clinic Appointments: Clinic appointments with Dr. Kishnani are FULLY BOOKED at this time. As expected, we received a huge number of requests and unfortunately, we were not able to offer appointments to all who sent in a request. For those who were not able to complete the form, it is likely the request form was closed by the time you opened it, as we closed it as soon as we felt we had reached capacity. That being said, some individuals who completed the form did not get their requested appointments, and for this we apologize if we were unable to offer you an appointment. If you would like to be scheduled for a different clinic day in the future, please let us know ASAP.
  3. Hotel: We learned there was an issue with the previous hotel reservation link that was posted on our Facebook page last week. The room block is for Friday, August 5 and Saturday, August 6 ONLY. We were not able to secure a room block for Thursday night as the hotel was already heavily booked; there may still be some rooms left, but not at the discounted rate. The Sheraton is currently undergoing some construction and thus our room blocks were a bit more restricted this year than in years past. You may make a reservation using this link, taking care to adjust your dates accordingly: Book your group rate for Duke Pediatric Pompe Meeting 2022We expect these rooms to go fast. The last day to book is July 11, 2022.
  4. Agenda: The agenda is being finalized and will be distributed as soon as all speakers have confirmed.

Please feel free to send us any additional questions directly to this email address: We are happy to assist you and once again thank you for your patience as we plan our first in person meeting in 3 years! We are so looking forward to seeing you all.  


The Duke Pompe Team

Lysosomal Disease Network annual meeting 2022

The Lysosomal Disease Network’s annual “all consortium” meeting has been scheduled for June 24th, 2022, Noon – 4 PM EST. Please watch this space for future details. Specific topics you would like to see on the Agenda can be sent to David Erickson at

Precision Metrics for Cognition

The National MPS Society is pleased to bring a special opportunity to our supporters who develop and administer clinical trials.
This year, at the WORLDSymposium, a panel of experts in neurocognition held a special session to discuss the urgent need to develop and implement precise metrics for quantitating change in children with lysosomal and other neurological diseases. “Precision Metrics for Cognitive and Adaptive Measures in Clinical Trials” featured an explanation and rationale for using growth scale values (GSVs) to measure longitudinal cognitive and adaptive changes in early onset and severe neurological diseases. These scores are available for tests that are widely used in clinical trials such as the Bayley and the Vineland. 
We know this topic is important to your work. To facilitate a wider dissemination of the symposium we are hosting a live follow-up Q&A session with the panel on March 17, Noon, EST. Registering for this webinar will allow you access to the symposium recordings.
Clinical trial development could not happen without the strong partnership between academia and industry. To support this collaboration, there is no cost to attend or to access the recordings.
Click to register, and please feel free to share with others on your team who may be interested.
Terri Klein, MPA
President & CEO
National MPS Society
If you are interested but can not attend the live webinar, register and we will send you a link to the recording.
Register for the Webinar

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

WORLDSymposium Annual Meeting

WORLDSymposium annual meeting, February 6 – 11, 2022 at the Manchester Grand Hyatt, San Diego, CA

Five full days of new discoveries, cutting-edge research, and updates from ongoing studies will be presented by scientists and clinicians from around the globe. This year’s program includes exciting breakthroughs in Basic Science, Translational Research, Clinical Applications and much more.

18th Annual WORLDSymposium
*January 31, 2022: Emerging Trends
February 6, 2022: Robert J. Gorlin Symposium
February 7-11, 2022: Research Meeting
Manchester Grand Hyatt, San Diego, CA, USA

*Emerging Trends 2022 is a pre-recorded virtual-only session that will be available to view online starting Monday, January 31, 2022 and will be available to watch on demand until March 15, 2022.