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

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.

Letter from Sue Kahn, Executive Director, NTSAD: Starting a new chapter after stepping down from leadership

National Tay-Sachs & Allied Diseases Association

June 2021   

Dear NTSAD Community,   
It’s with mixed emotions that I share with you that after nearly 14 years, I am stepping down from my role as NTSAD’s executive director at the end of October. I am looking forward to starting a new chapter in my life, knowing that NTSAD remains strong. I will help facilitate a smooth transition in leadership and support the board of directors who has initiated the search for my successor.    

It has been my great honor to lead NTSAD. I am proud of the extraordinary progress in research as well as our ongoing efforts to put the needs of families first with comprehensive resources, programs, and services. Together, we have accomplished more than I ever hoped when I joined NTSAD in 2007. Currently, there are 14 drug development programs and clinical trials underway, and industry continues to invest in developing therapies for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.
NTSAD is one of the oldest and most respected patient advocacy groups in the rare community and remains in a position of financial strength with healthy reserves. I am immensely grateful to our dedicated board of directors and compassionate NTSAD staff.

In addition, NTSAD has a five-year strategic plan in place, and recently broadened research direction focusing on clinical development, early diagnosis, newborn screening, and translational research. During the last two decades, NTSAD invested in much of the early research that has led to today’s drug development programs and clinical trials. Since 2002, NTSAD has awarded more than $4 million in research grants that have been leveraged to more than $30 million in additional grants from the National Institutes of Health and other institutions.
The people, the organization, and my work all mean so much to me. This role has allowed me to connect with inspiring people, starting with the families who allow us to share in the darkest and brightest days of their journey, and who will move mountains to advocate for their child or themselves, support others, and raise money for research. I also have been honored to work closely with brilliant and dedicated experts who are making a brighter future possible through research, clinical care, or developing new treatments. It has been a blessing to meet so many people who have influenced me and touched my heart.

The work continues, and I look forward to celebrating with you when effective treatments are found. My heart will remain with the NTSAD Community, always.
With gratitude, 

P.S. If you have any questions about the search, please contact

National MPS Society Family Meeting

SAVE THE DATE! — Join us June 19-20 and 26-27 for our 35th Annual Family Conference! Taking place virtually, this conference will focus around the theme of remaining connected and the overlap within diagnoses, but highlight and recognize the uniqueness of each through individualized sessions for each syndrome type. The conference features clinicians, scientists, researchers, FDA representatives, advocacy, family support, and much more. More information here, registration information coming soon!

COVID-19 Mitigation Strategies in Pediatric Rare Disease Clinical Trials Virtual Workshop – May 7th, 2021

A virtual workshop “COVID-19 Mitigation Strategies in Pediatric Rare Disease Clinical Trials” is being offered by the Critical Path Institute.

On May 7, 2021, 12:00-1:30 PM Eastern Time (US), the Patient-Reported Outcome (PRO) Consortium’s Rare Disease Subcommittee will hold a complimentary virtual workshop on COVID-19 Mitigation Strategies in Pediatric Rare Disease Clinical Trials. The workshop facilitators will foster an interactive format, with attendees encouraged to share their own challenges and mitigation strategies.

Objectives for the workshop:

  • Identify challenges to conducting pediatric rare disease clinical trials posed by COVID-19.
  • Present a range of strategies aimed at limiting the impact of COVID-19 on the conduct of pediatric rare disease clinical trials.
  • Present a range of mitigation strategies aimed at safely and successfully conducting in-person and remote assessments under pandemic conditions.
  • Provide an interactive forum for idea sharing related to COVID-19 impact and mitigation strategies across a variety of stakeholders.

The workshop presentation will be recorded and posted to the PRO Consortium’s web page following the workshop. In addition, a document summarizing identified challenges and mitigation strategies in pediatric rare disease trials under pandemic conditions will be posted on the PRO Consortium website for reference.

Register here

Free online CME course available on Sanfilippo syndrome

A free, online, continuing medical education (CME) course is available for any healthcare provider interested in learning about Sanfilippo syndrome.

The 30-minute course is targeted to healthcare providers who are unfamiliar with Sanfilippo, also known as Mucopolysaccaridosis type III (MPS III).

Upon completion of the course, participants should be better able to:

  • Review Sanfilippo syndrome (MPS III) as a lysosomal storage disease
  • Relate the progressive nature of the disease
  • Describe clinical features frequently present at the time of diagnosis
  • Name three common pediatric diagnoses associated with Sanfilippo syndrome
  • Consider ordering urine GAG test and/or MPS enzyme panel once clinical suspicion is raised

This course is ideal for physicians, nurse practitioners, therapists, pharmacists, and anyone generally interested in learning more about Sanfilippo syndrome.

The free online CME course on Sanfilippo is available through June 29, 2021.

Creation of the course was supported by an independent education grant from Abeona Therapeutics.

Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, was a contributor to the content of the course in collaboration with P2P Syncro.

The training is available at:

Advanced lecture course, offered by FEBS*

* Federation of European Biochemical SocietiesA charitable organization advancing research in the molecular life sciences across Europe and beyond.

360° Lysosome: from Structure to Genomics, from Function to Disease

This course will be held in Kusadasi, Turkey, October 5-10, 2021. This course will focus on lysosome biology and function, new metabolic and signaling insights into the function of lysosomes, pathophysiological mechanisms of lysosomal dysfunction in living cells. This course will bring together Basic Scientists & lab researchers & clinicians working on this unique field on the molecular and cellular aspects of lysosomal storage diseases. This workshop intends to create a scientific platform to discuss advances in the field as well as to establish novel networks among the participants for future collaborations. In order to maximize the opportunities for interactions between young researchers and all participants, the workshop is planned in a dynamic format of plenaries, panels, round-table discussion, poster and oral presentation sessions. A specific meeting slot is allocated for Breakfast & Young Scientists Professional Development. This meeting is a preferential slot which will deal with hot issues in the postgraduate education and further academic and/or industrial careers of young scientists.