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April 2021 Research Update: New research in 2021 and promising projects already underway

April 26, 2021

Children should have the chance to grow up. Parents should never have to watch their children suffer and die. There needs to be a treatment or cure for Sanfilippo Syndrome.

That’s why you support the Foundation’s mission to help children with Sanfilippo.

Critical progress is being made because of your support. And we want to update you with this April 2021 Research Update on the latest research that your support is funding and how it is getting us closer to a treatment or cure for children.

Research to Halt Sanfilippo’s Impact

Project: Neural Stem Cell Therapy

Neural stem cells have shown the ability to move from the point of injection to areas throughout the brain. Use of gene-modified neural stem cells would allow for a wide distribution of the missing Sanfilippo enzyme AND provide healthy cells back into the brain.

The Foundation is funding research on this breakthrough therapy that aims to solve two important aspects of the disease: the missing Sanfilippo enzyme and the loss of brain cells. We hope that even children who have had neurologic decline could benefit from this type of therapy.

Project: First-Ever Gene Therapy Clinical Trial for Type C

Last year, your support enabled the Foundation to support plasmid creation (first step in gene-therapy production) and the required preclinical study for the first-ever gene therapy clinical trial for Type C. By this June, two additional research contracts for final pre-clinical work and the start of drug production must be paid in order to keep progress toward the clinical trial on track.

Research to Slow Sanfilippo’s Progression & Reduce Symptoms

Project: Anakinra Clinical Trial

Early data from this Foundation-funded and collaboratively-designed clinical trial has shown promising benefit in alleviating children’s symptoms and discomfort. Your support made this trial possible, which is open to children with all types of Sanfilippo (A,B, C, and D).

Two poster presentations were shared at the WORLDSymposium 2021. This has stimulated broader research interest around the world into the role of inflammation in Sanfilippo disease.

Enrollment in this study is anticipated to be complete by Summer 2021. However, more than 70 children remain on the waiting list. With so many children still waiting, we hope you will continue to support our efforts to increase children’s access to this promising medication. An expansion of this clinical trial is needed to enable more children on the wait list to be treated, to allow children already enrolled to continue receiving Anakinra, and to complete the FDA process to have Anakinra approved for Sanfilippo.

Project: Investigating NDST1 Inhibitors as Substrate Reduction Therapy

Building on earlier Foundation-funded research, this project is testing promising candidate drugs that have the potential to reduce the body’s natural production of heparan sulfate, which is the harmful substance that accumulates in Sanfilippo. Less build-up over time could slow the disease progression and reduce symptoms. This could also be a good combination strategy with other enzyme-replacement treatments in development.

Project: Investigating Use of “Molecular Tweezer” CLR01

Earlier Foundation-funded research found that drug candidate CLR01 in young Sanfilippo type A mice significantly-reduced protein aggregation and inflammation in the brain. This project will expand the study of CLR01 in Sanfilippo Types B and C mouse models. Dosing regimens and chronic treatment effects will also be studied in young and advanced-age animals to determine the best treatment doses to move forward in hopes of a future clinical trial.

Project: Exploring Anti-Fungal Immunity & Airway Microbiome

This research may help us understand why pneumonia is the leading cause of death in Sanfilippo Syndrome and may lead to better therapeutic strategies to treat lung infections. Research findings will provide information on the microbiome (bacterial living in us naturally) and mycobiome (fungal elements living in us naturally) of Sanfilippo patients on which future research can be built.

Research to Diagnose Sanfilippo Earlier

Project: Newborn Screening Pilot Study

When children with a rare disease are diagnosed at birth, they have the greatest opportunity to receive timely treatments or participate in clinical trials that can provide them the best possible better quality of life and less pain and suffering.

Because of you, the Foundation is supporting the largest-planned prospective, consented newborn screening pilot in the US. ScreenPlus is a study based in New York that will screen babies at hospitals serving a range of ethnically-diverse populations. Foundation funding support will allow for increased screenings and the inclusion of Sanfilippo A and B on the screening panel.

This study will gather the data necessary to petition for the addition of Sanfilippo Syndrome newborn screening at the federal level.

See the complete list of the Foundation’s grants, including the grants and projects listed in this April 2021 Research Update.

“This work is happening and will continue only thanks to your support,” said Foundation President Glenn O’Neill. “Please keep us in your giving portfolio of generosity so we can move closer to a cure. Thank you!”

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