Advocacy Groups Unveil ‘Roadmap’ for Sanfilippo Research, Care

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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A coalition of patient advocacy organizations has published a Global Roadmap for Sanfilippo Syndrome Therapies, in an effort to accelerate research and develop effective therapies and care for families affected by Sanfilippo syndrome.

“The Roadmap aims to capture the historical landscape of research and clinical trials, the gaps that we currently see which are limiting progress, and ways in which we can move forward to address them collaboratively,” Cara O’Neill, MD, said in a press release. O’Neill, the chief science officer at Cure Sanfilippo Foundation, is a co-developer of the strategy plan.

“Notably, we have done this through the lens of impact on the patients and families who are affected,” she said. “We hope the Roadmap creates a level understanding of the evolving state of science regarding Sanfilippo at this time and where work needs to be done to better address those gaps with a patient-centered mindset.”

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The roadmap was created by drawing on the expertise of researchers and clinicians, as well as advocacy organizations and families affected by Sanfilippo. The developers conducted a review of scientific literature, as well as detailed interviews with members of the Sanfilippo community.

The roadmap outlines three broad goals for Sanfilippo therapy.

First, it emphasizes the importance of targeting the root cause of Sanfilippo, which is a neurological disorder caused by genetic mutations that render cells unable to make certain enzymes. These enzymes usually are needed to break down a large sugar molecule called heparan sulfate. In Sanfilippo, this sugar molecule builds up to toxic levels in cells.

Several therapeutic strategies are being investigated to target the cause of Sanfilippo, including gene therapies to deliver healthy versions of the mutated genes to the body’s cells, and enzyme replacement therapies that administer a version of the missing enzyme.

The roadmap’s second goal is to address the downstream effects of the buildup of heparan sulfate in the body. In the brain, this buildup is accompanied by inflammation, abnormal protein aggregation, and neuronal cell death. The mechanisms of these processes, and their relevance in disease, remain incompletely understood, which has posed a stumbling block for developing new intervention strategies.

The roadmap calls for further research into these biological processes, with an eye towards developing therapies that can help patients.

The third and final goal specified in the roadmap is to help patients and families manage living with Sanfilippo, and giving them support and education to improve their quality of life.

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The roadmap emphasizes collaboration to support people affected by Sanfilippo. This includes developing relationships among clinicians, researchers, and regulatory authorities to speed new therapies, as well as facilitating connections among the Sanfilippo community so that families can help and support each other.

Included in the roadmap are resources available to researchers, such as datasets, experimental tools, and opportunities for collaboration.

“Now, with the Roadmap in hand, Sanfilippo patient organizations from around the world can more effectively come together to focus attention on their shared priorities,” the Cure Sanfilippo Foundation stated.