Lysosomal Disease Network

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

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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: Research@nullCureSanfilippoFoundation.org,

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

https://curesanfilippofoundation.org/how-to-help/for-researchers/funding-opportunities/

For additional questions, contact Cara@nullCureSanfilippoFoundation.org. 

World Sanfilippo Awareness Day – November 16th

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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

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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

Research suggests mucopolysaccharidosis patients may be less vulnerable to COVID-19

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Researchers at the University of Gdańsk, Poland have conducted tests that show certain genes in the DNA of MPS patients render their cells less susceptible to COVID-19 infection than normal cells, though the typical – for storage diseases – narrowing of the respiratory tract and presence of thick mucous are still risk factors for infection. The full text of the article is available here

2020 Virtual Fabry Family Education Conference

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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.

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

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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 …

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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.

Recent research reviews the impact of COVID-19 on lysosomal disease patients

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Recent research from Italy reviews the impact of COVID-19 on patients with lysosomal disease, in a manuscript titled “Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience” published in the journal Molecular Genetics & Metabolism. The complete text of the article is available here.

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

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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.