Cure Sanfilippo Foundation now accepting Letters of Intent (LOI) for innovative research into Sanfilippo syndrome (MPS III)

Cure Sanfilippo Foundation seeks to support research that fills critical gaps in current knowledge across basic science, clinical care, and translational therapeutics which will ultimately improve the lives of children with Sanfilippo syndrome. Scientist-clinician-patient collaborations are highly encouraged. The Foundation is available to assist in facilitating connections with patients/caregivers to inform projects as needed. 

Sanfilippo syndrome (MPS III) is a multisystem metabolic disease with prominent neurodevelopmental and neurodegenerative consequences for affected children. There are currently no treatment options available for this terminal condition but we are working hard with the scientific community to change that! 

Deadline to Apply: Submit your Letter of Intent (LOI) using the downloadable form to:,

For more information on this current funding opportunity and LOI form, we invite you to visit us at:

For additional questions, contact 

Gaucher patients in Spain turn to home-based infusions to avoid COVID-19 exposure

Recent research in Spain suggests that home-based infusion may be necessary to minimize patient exposure to COVID-19 in the clinic. The full text of the article, as published in the journal Blood Cells, Molecules & Diseases , is available here.

National Gaucher Foundation shares COVID-19 tips, precautions, and more …

The National Gaucher foundation has provided COVID-19 tips, precautions, and a COVID-19 glossary as well as other resources, on their website for Gaucher patients and families.

FSIG provides online application to assist in patient care during COVID-19 crisis

The Fabry Support & Information Group (FSIG) features an Appointment Companion portal on its website – to help patients remotely inform Fabry care teams during the COVID-19 crisis about their treatment goals and challenges, browse clinical trials, and compare treatment centers. 

RDCRN to expand

On Oct. 3, 2019, NIH announced awards to expand the RDCRN.

The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.

Currently, the RDCRN consists of 20 distinct clinical research consortia and a Data Management and Coordinating Center (DMCC). Each consortium focuses on at least three related rare diseases, participates in multisite studies and actively involves patient advocacy groups as research partners. The DMCC enables uniform high-quality data collection and analysis and facilitates information sharing across the network. This robust data source helps scientists better understand the common elements of rare diseases so they may apply that knowledge to improving diagnosis and treatment for these conditions.

Lysosomal Disorders Network headed by Chester B. Whitley, M.D., Ph.D., University of Minnesota, Minneapolis was the recipient of one of the awards.

Learn more about this project in NIH RePORTER.

Progress Towards Clinical Trial for Treatment of MPS IIIC

U.S.-based biotechnology company Phoenix Nest, Inc. has signed a license agreement with the University of Manchester in the U.K. to use the product of research conducted by Professor Brian Bigger’s laboratory at the University of Manchester, working in collaboration with Dr. Els Henckaerts’ laboratory at King’s College London. Dr. Bigger is Professor of Cell and Gene Therapy at the University of Manchester. Dr. Henckaerts is Lecturer in the Department of Infectious Diseases at King’s College London. Phoenix Nest, Inc. plans to take the licensed research product to clinical trial for patients with Sanfilippo syndrome type C (MPS IIIC). This license agreement is an important early step on the long journey to an FDA-approved clinical trial of this gene therapy.

The research product which has been licensed by Phoenix Nest, Inc. is based on the discovery of a novel adeno-associated viral vector (AAV) with an altered protein coat, which appears to make the virus work better within the brain. This new vector, called AAV-TT (AAV-true type), has been altered to efficiently deliver the missing HGSNAT gene to the brain to treat MPS IIIC. Comprising an international group of scientists, the research teams concluded that they had demonstrated complete behavioral and brain correction of Sanfilippo syndrome type C in mice. Dr. Bigger said, “This gene therapy technology, recently published in the journal Brain, will be used by Phoenix Nest to treat Sanfilippo syndrome type C.”

The Sanfilippo Children’s Foundation (in Australia), an LDN-associated patient advocacy group, was one of eight foundations who helped co-fund this research project. The other co-funding foundations included: Jonah’s Just Begun, another LDN-associated patient advocacy group; King’s College London Commercialization InstituteSanfilippo BarcelonaSanfilipo PortugalSanfilippo BrasilLe Combat de Haitem-Contre SanfilippoJLK Sanfilippo Research Foundation; and VML Foundation. Additional funding sources are listed near the end of the article in Brain.

Gene Therapy Clinical Trial for Sanfilippo Syndrome Type B (MPS IIIB) is Underway

Abeona Therapeutics, Inc. is enrolling individuals aged 6 months and older who have MPS IIIB and evidence of neurologic dysfunction in its Phase I/II non-randomized clinical trial of a one-time gene therapy with ABO-101. ABO-101 is Abeona’s designation for rAAV9.CMV.hNAGLU. The clinical trial is an open-label, dose-escalation trial of ABO-101 injected intravenously through a peripheral limb vein. Trial participants will receive a one-time intravenous injection of either high- or low-dose ABO-101. Researchers will then assess the treatment’s safety and effectiveness at six, 12, and 24 months after gene therapy administration. There are two clinic locations for this clinical trial: Nationwide Children’s Hospital in Columbus, Ohio, USA; and Hospital Clínico Universitario de Santiago, in Santiago De Compostela, Spain.

Minnesota Senate Creates New Rare Disease Advisory Council

On May 8, 2019 the Minnesota Senate unanimously passed legislation that would create a new rare disease advisory council at the University of Minnesota to facilitate the study and treatment of rare diseases. Erica Barnes, co-founder and Board Chairperson of Chloe’s Fight Rare Disease Foundation, worked tirelessly for the creation and passage of this bill. Chloe’s Fight Rare Disease Foundation is affiliated with the Lysosomal Disease Network.

The bipartisan bill, authored by Sen. Jeremy Miller (R-Winona), created the ‘Chloe Barnes Rare Disease Advisory Council’ at the University of Minnesota. The late Chloe Barnes was born with metachromatic leukodystrophy, and was the daughter of Erica Barnes. Chloe died of metachromatic leukodystrophy at the age of two in 2010.

The work of the Chloe Barnes Rare Disease Advisory Council is to identify best practices to diagnose and treat rare diseases; to educate the public; and to advise state agencies on related policy issues. To facilitate close collaboration with experts at the University of Minnesota Medical School and the Mayo Clinic School of Medicine, the Council will be established within the University of Minnesota. The Council will partner with legislators and other government leaders to provide expert opinion on the provider‐patient relationship, increase access to vital life‐saving medications and therapies, and bring cutting-edge research and technologies to Minnesota. Physicians, nurses, hospital administrators, rare disease advocacy organizations, caretakers, and patients themselves will have a seat at the table.

Senator Miller said, “Creating this new Rare Disease Advisory Council will help families receive faster diagnoses, advance groundbreaking research, and ultimately help find cures. I am especially proud of the amazing grassroots effort behind this bill. This was driven by everyday people who took a difficult situation and channeled their frustration, their grief, and their anxiety into something incredibly positive. This includes the family of Chloe Barnes and the Quimby family from Winona who lost their 5-year-old son Gavin to a rare disease. I’m proud to play a small part in their story.”

The interesting details about the membership of the Chloe Barnes Rare Disease Advisory Council and the members’ appointment-term are here (click on the “Bill Text” tab). Initial appointments to the Chloe Barnes Rare Disease Advisory Council shall be made no later than September 1, 2019.