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, 
Sue


P.S. If you have any questions about the search, please contact EDSearch@nullntsad.org.

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: https://learning.freecme.com/a/36191P2VWjvN

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.

rare disease day

Rare Disease Day 2021

This Sunday, February 28th, is Rare Disease Day, all around the world!

Events will kick off Friday, February 26th, with the University of Minnesota’s virtual presentation: “Telehealth in Rare Disease Clinical Practice and Research: The Silver Lining Now and Beyond COVID-19“. Register for the program here.

Check out other events on the official website, rarediseaseday.org and look for more information from NORD (National Organization for Rare Disorders) and NIH (National Institutes of Health).

Patients, families, caregivers, and allies have an opportunity to raise rare disease awareness through participation in events and presentations, so join in and let your voice be heard!

Tell your story, get information about treatments and resources, and come together as a community dedicated to finding cures for rare diseases!

Follow Rare Disease Day on their official facebook, instagram, and twitter feeds!

World Sanfilippo Awareness Day – November 16th

World Sanfilippo Awareness Day on Nov. 16 is about spreading awareness and sparking conversations globally about Sanfilippo Syndrome, a disease few have heard of. 

This special day of Awareness is in honor of the children around the world living with Sanfilippo Syndrome today, and those who have passed away.

It also honors the families of these precious children.  

It is a community-wide awareness day and not specific to any foundation or organization. 

Additional information, flyers, social media images, and more are available at https://curesanfilippofoundation.org/worldsanfilippoawarenessday/.

Announcing: Neurocognitive and Neurobehavioral Measurement in Mucopolysaccharidoses: A Master Class

Presented by the National MPS Society and the University of Minnesota Division of Clinical Behavioral Neuroscience

Designed for doctoral-level psychologists, trainees, and psychometrists seeing MPS patients in clinical trials, this comprehensive course will provide a robust understanding and increased site readiness in response to the growing number of MPS trials. The Master Class will be held online and via live webinar Nov 12 and 19, with presentations geared to both those who are newly working in MPS and to those with expertise. Participants will have the opportunity to ask questions of world experts and to meaningfully connect with others in their field.

Master Class Faculty include world experts in MPS and cognitive assessment:

Elsa Shapiro, Ph.D.; Curriculum Development, Lead Faculty
Julie Eisengart, Ph.D.;  Site Educational Director, Lead Faculty
Paul Harmatz, MD; UCSF Benioff Children’s Hospital Oakland
Stewart Rust, D.Clin.Psy; Royal Manchester Children’s Hospital
Kelly King, Ph.D.; University of Minnesota
Heather Adams, Ph.D.;  University of Rochester Medical School
Kendra Bjoraker, Ph.D.; 3:1 Neuropsychology Consultants

Additional expert speakers include FDA representation and patient advocacy leaders

Qualified participants may register at no cost thanks to industry support through the National MPS Society. Interested attendees should apply by October 31st. Site PIs may use the same link to nominate psychologists.

Learn more at www.MPSMasterClass.com

2020 Virtual Fabry Family Education Conference

The National Fabry Disease Foundation’s virtual Fabry Education Conference is being held on October 3-4, 2020. Primary attendees are individuals with Fabry disease, family members, and caregivers. Other attendees from clinics and support organizations are welcome and encouraged to attend. Please see the conference guide and the conference website at https://tie.link/fabry. Registration closes on September 27, 2020. For more information, please contact Jerry Walter at jerry.walter@nullfabrydisease.org.

WORLDSymposium 2020

16th Annual WORLDSymposium is February 10 – 13, 2020 in Orlando, Florida, USA. This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.