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.

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, 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

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

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 Registration closes on September 27, 2020. For more information, please contact Jerry Walter at

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.

2019 AGSD Patient / Family / Professional Conference


Join the Association for Glycogen Storage Disease for their 41st Annual Patient/Family/Professional Conference for those affected with GSD, their families, and medical professionals involved in treatment or research of any type of GSD. The focus of this annual conference is meeting other people and families affected by GSD, gaining a better understanding of the GSDs and their implications, and learning about the latest research findings and upcoming studies.

The 2019 AGSD Patient/Family/Professional Conference will convene at the Hilton Houston NASA Clear Lake, and August 30, 2019 is the deadline for the special AGSD Conference room-rate of $109/night + taxes. Conference registration is now active. After August 30th, a late fee of $50.00 will be added to all conference registrations. Hotel reservations are attendees’ responsibility. The hotel parking fee is waived. Please call the Hilton Houston NASA Clear Lake at 1-866-577-1156 to make your reservation. You must identify yourself as part of the “AGSD Annual 2019 Conference” to get their discounted rate by the August 30th deadline.

If traveling by air, Hobby Airport [HOU] is the closest airport to the conference location. There is no free airport-shuttle offered by the hotel.

The AGSD Conference costs include the registration fee and the meal costs for Friday evening dinner and Saturday lunch. The Saturday evening dinner and entertainment is provided free for all conference registrants. The 1-mile Fun Run/Walk will be held at the completion of the Conference on Saturday; Fun Run/Walk registration is now open. The Fun Run/Walk is the main fundraiser for the Association for Glycogen Storage Disease this year, and participants are encouraged to enroll sponsors of their run/walk (pledge sheets are available). For further information about the Fun Run/Walk, please contact Jessica Knepler (or by phone at 815-483-1244).

Rare Patient Advocacy Summit


Global Genes® ‘RARE Patient Advocacy Summit‘ gives rare disease stakeholders the opportunity to connect and learn through educational sessions and networking opportunities. Attracting more than 800 attendees, it is the largest gathering of rare disease patients, advocates and thought leaders worldwide. This year’s summit convenes at Sheraton San Diego Hotel & Marina.

Online registration is available now. The final deadline for a discount on the registration cost is July 31, 2019Exhibitors can book their booth space now. Contact Global Genes® for answers to your exhibiting questions.