Episode 12:  “A Close Look At Sanfilippo” is a regular 10-minute podcast covering five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no FDA-approved treatment.

In this episode Glenn O’Neill, president and co-founder of Cure Sanfilippo Foundation, talks about things happening in Sanfilippo today, things underway, and things to come. 

He kicks off with sharing the status of the next-generation gene therapy for Type A and B at University of North Carolina/Chapel Hill and projected timeline for clinical trials. He also announces that the Foundation is partnering with The Lundquist Institute for a new drug repurposing clinical trial that will be open to all types of Sanfilippo and likely children of all ages. He also shares the hopefully start date for this trial.

O’Neill spends a moment talking about the Foundation’s most-recent grant funding round, where researchers globally were invited to submit their research ideas for funding. This year included a new fellowship award to stimulate early-career researchers’ interest in Sanfilippo Syndrome.

O’Neill also touches on the upcoming Giving Tuesday and its importance relative to upcoming research projects. He shares the bold goal for this year’s Giving Tuesday, saying that “to better these children’s lives [those living with Sanfilippo Syndrome], we have to be aggressive and press the envelope.”

He announces publication of the Foundation-led, first-ever consensus Global Clinical Care Guidelines for Sanfilippo Syndrome. The document contains extensive guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes, helping clinicians and families give children the best quality of life possible.

He briefly revisits highlights from this summer’s Sanfilippo community conference, ADVANCE 2022, hosted by the Foundation, which are available as on-demand recordings. 

For the final topic of this podcast, he answers the most-common and hardest question that people ask him and his wife. 

Access Clinical Care Guidelines for Sanfilippo: http://www.SanfilippoCareGuidelines.com

Access the ADVANCE 2022 replays: https://www.CureSanfilippoFoundation....

Questions: Contact@CureSanfilippoFoundation.org

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Twitter: https://twitter.com/CureSanfilippoF
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#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast

Music credit: Springish by Gillicuddy (https://www.freemusicarchive.org/musi...)

© 2022 Copyright reserved Cure Sanfilippo Foundation

Episode 11: “A Close Look At Sanfilippo” is a regular 10-minute podcast covering five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no FDA-approved treatment.

In this episode Glenn O’Neill, president and co-founder of Cure Sanfilippo Foundation, shares highlights from the 2022 WOLRD Symposium conference on lysosomal storage disorders. Including meetings with biotechs newly engaging in Sanfilippo research, as well as researcher Dr. Haiyan Fu of UNC Chapel Hill for an update on the Foundation-funded gene therapy research and when the clinical trial might begin (hint: likely this year). Glenn also shares his time spent with the Wacker family, whose daughter was recently diagnosed, and how they helped him out in a pinch.

Glenn talks about one of two poster presentations on CSF-funded projects at WORLD. The important poster presentation detailed early promising results from the Anakinra clinical trial. It reported that 82% of patients in the Anakinra trial had an improvement in at least one of the outcome measures after 8 weeks of treatment and 100% after 16 weeks.

Glenn then dives into important insights and considerations in relation to news that Abeona Therapeutics is closing its ABO-003 gene therapy clinical trial for Type A for patients with middle and advanced phases of Sanfilippo Syndrome. He addresses if this impacts whether gene therapy still holds a promise of benefit for children with Sanfilippo.

He closes this podcast episode sharing some of the amazing fundraising that have happened lately and are coming up and how the Foundation joined the rare disease community’s recent collective legislative advocacy to influence positive change for research on rare diseases.

Questions: Contact@CureSanfilippoFoundation.org

Follow Cure Sanfilippo Foundation:

#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast

Episode 10: “A Close Look At Sanfilippo” is a regular 10-minute podcast covering five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no FDA-approved treatment.

In this episode Glenn O’Neill, president and co-founder of Cure Sanfilippo Foundation, talks about how the Foundation finished 2021 in fundraising and early generosity in 2022. Find out about the four key areas the Foundation, in collaboration Team Sanfilippo Foundation, will be addressing with the U.S. Food & Drug Administration (FDA) in a meeting to discuss better inclusion of the caregiver voice and preferences in research for Sanfilippo Syndrome. Glenn also shares details of two research grants that were recently approved by the Foundation’s board for funding. Hear how the Foundation is staying personally connected with its partner families, hear how they are doing, and get input on steering the Foundation. Glenn closed with explaining the significance of the upcoming WORLDSymposium conference and how the Foundation will be present. He shares excitement about two poster presentations regarding Foundation-supported projects, including one that will share results of the Anakinra clinical trial after 8 weeks of treatment. 

Read the stories of our partner families: https://www.CureSFF.org/Families

Free WORLDSymposium registration for patients/families: https://worldsymposia.org/

Questions: Contact@CureSanfilippoFoundation.org

Follow Cure Sanfilippo Foundation:
Facebook: https://www.facebook.com/CureSanfilip...
Twitter: https://twitter.com/CureSanfilippoF
Instagram: https://www.instagram.com/curesanfili...
TikTok: https://www.tiktok.com/@curesanfilippo