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.

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease – new PubMed article!

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J.Mol Genet Metab. 2021 Apr 3:S1096-7192(21)00083-4. doi: 10.1016/j.ymgme.2021.03.016. Online ahead of print.PMID: 33832819 

Excerpt – “Objective: to provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD).

Read the full text of the article here.

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!

Sanfilippo Children’s Foundation 2021 grants round opens February 24, 2021

The Sanfilippo Children’s Foundation is now accepting Expressions of Interest for their 2021 Grants Round.

Important dates:
– Wednesday 24 February: Grant round opens (Expression of Interest application forms will be made available on our website)
– Wednesday 24 March: Expression of Interest due

The Sanfilippo Children’s Foundation is particularly interested in three focus areas:
– halt disease progression through therapies such as enzyme replacement, gene therapy and cell therapy and strategies to enhance the effectiveness of such emerging therapies
– repair and reverse the cell damage caused by Sanfilippo Syndrome, which could include the application of neuroregeneration advances made for other neurodegenerative diseases
– improve quality of life through palliative care and symptom management specific to Sanfilippo Syndrome

More information about our research strategy and funding program can be found on our website: https://www.sanfilippo.org.au/research/research-funding-program

The purpose of the Sanfilippo Children’s Foundation is to drive research for a world without Sanfilippo Syndrome.

This will be achieved by:

  • Funding research which might halt progression of the condition, reverse damage caused or improve quality of life for patients with the condition;
  • Providing clear, accurate and up-to-date information to diagnosed families regarding the disease, therapeutic avenues and current research programs;
  • Raising awareness of the disease amongst the community, including the medical profession;
  • Advocating for improved outcomes for the Sanfilippo patient community;
  • Improving the diagnosis path – more accurate and earlier diagnosis to enable appropriate treatment.

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.”