PODCAST

A Close Look at Sanfilippo

Cure Sanfilippo Foundation

Questions/Comments: Email Contact@CureSanfilippoFoundation.orgFollow and/or support Cure Sanfilippo FoundationWebsite: www.CureSanfilippoFoundation.orgFacebook: https://www.facebook.com/CureSanfilippoFoundationTwitter: https://twitter.com/CureSanfilippoFInstagram: https://www.instagram.com/curesanfilippofnd/TikTok: https://www.tiktok.com/@curesanfilippo

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WORLD Symposium highlights Anakinra early results; upcoming gene therapy trial; + more
Mar 28 2022
WORLD Symposium highlights Anakinra early results; upcoming gene therapy trial; + more
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.orgFollow Cure Sanfilippo Foundation:#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast
WORLD Symposium highlights Anakinra early results; upcoming gene therapy trial; + more
Mar 28 2022
WORLD Symposium highlights Anakinra early results; upcoming gene therapy trial; + more
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.orgFollow Cure Sanfilippo Foundation:#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast
Kicking off 2022; upcoming key meeting with FDA; recent grants, WORLD conference, & more
Jan 26 2022
Kicking off 2022; upcoming key meeting with FDA; recent grants, WORLD conference, & more
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: Free WORLDSymposium registration for patients/families: Contact@CureSanfilippoFoundation.orgFollow Cure Sanfilippo Foundation:Facebook:
BIG WEEK! World Sanfilippo Day & viral campaign, Trivia Gala, All Stripes & more
Nov 16 2021
BIG WEEK! World Sanfilippo Day & viral campaign, Trivia Gala, All Stripes & more
EPISODE 8: “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, praises the Sanfilippo Syndrome community as families and organizations globally are raising awareness in celebration of World Sanfilippo Awareness Day, Nov. 16. He encourages that being a part of World Sanfilippo Awareness Day can be as simple as social media posts or personally telling others about these children and their families.Glenn then announces the launch of a new viral video, Help Simon, on Nov. 16 to raise $1 million for promising research and how watching and sharing the video makes a huge impact.A new face to the podcast, Foundation Development Associate Lindsey Shealy announces that the second annual Merry & Bright Trivia Gala, Dec. 10, will be a complimentary event for donors, partners families, and industry partners as thanks for all they do. Registration is open for this complimentary, light-hearted night of interactive and jolly trivia. Link to register is below.Next Glenn explores the power of parents participating in the AllStripes platform. He describes how the platform easily aggregates a child’s medical records into a single source for parents to reference and share with care providers. Additionally, AllStripes provides a huge boost to the future of Sanfilippo research. All of the de-identified data helps create a more extensive pool of natural history data that includes a wide variety of potential research endpoints that could expedite the process for clinical trials to begin. Parents of Sanfilippo Angels, children who have passed away, are especially valuable as AllStripes participants because their de-identified medical records provide a picture of the entire life’s journey withSanfilippo.With Giving Tuesday being a part of the holiday season, Glenn shares that the Foundation and its partner families will be participating in this outpouring of generous support globally. He also explains how Giving Tuesday is among a variety of opportunities the Foundation coordinates so partner families have a variety of opportunities throughout the year from which to choose what ways they would like to support the mission.World Sanfilippo Awareness Day: for Merry & Bright Trivia Gala Night: in AllStripes: Contact@CureSanfilippoFoundation.orgFollow Cure Sanfilippo Foundation:Facebook: #RareDisease #ACureCantWait #ACloseLook #Podcast #HandsOfHope #WorldSanfilippoDay #HelpSimonMusic credit: Springish by Gillicuddy( 2021 Copyright reserved Cure Sanfilippo Foundation
Sanfilippo & accelerated approval; newly-diagnosed guide; World Sanfilippo Awareness Day & more
Oct 28 2021
Sanfilippo & accelerated approval; newly-diagnosed guide; World Sanfilippo Awareness Day & more
Episode 7.  “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 footage from his presentation during an EveryLife Foundation scientific workshop in which he made the case for why Sanfilippo Syndrome is an ideal candidate for the FDA’s accelerated approval program and how there are likely multiple treatments that could start helping children with Sanfilippo in some way right now. “It’s urgent to us! The children [with Sanfilippo] are getting worse every second as the storage of heparan sulfate accumulates in every cell. Sanfilippo is not a disease to be conservative regarding the drug development path … Accelerated approval could give these children a chance at better days, more time, and maybe more comfort. Let’s start with that, and we can improve on it from there. As one of our parents stated, ‘Doing nothing is the greatest risk in Sanfilippo.’”Katie Walton, VP of Marketing for the Foundation, introduces a new resource created for parents of children newly diagnosed with Sanfilippo. The brief guide walks through initial questions most families have about Sanfilippo and what to do next, to help them proactively care for their child and give them the best quality of life.Next Glenn dives into how donors’ generous support of the Foundation has made more than 30 research projects possible in just eight years, some of which have moved from promising lab research into clinical trials. Plus, how the Foundation’s diverse approach to funding research -- exploring multiple treatment and therapeutic options, supporting programs for early detection of Sanfilippo (physician education, newborn screening), and creating of global clinical management guidelines for Sanfilippo -- all contribute to improving the lives of children with Sanfilippo.For the final two topics in this episode, Glenn shares how people can participate in the third annual World Sanfilippo Awareness Day on Nov. 16 and the end-of-year goals for the Foundation and how people’s generous hearts make reaching $2 million in fundraising each year a possibility. “We’re so thankful. … In this podcast we showed you what impact the dollars for research lead to. The impact and the difference donors are making is clear.”See Glenn’s full EveryLife workshop presentation: the Guide for Newly-Diagnosed Families: of Foundation’s funded research grants: Sanfilippo Awareness Day information: Contact@CureSanfilippoFoundation.orgFollow Cure Sanfilippo Foundation:Facebook: #RareDisease #ACureCantWait #ACloseLook #PodcastMusic credit: Springish by Gillicuddy( 2021 Copyright reserved Cure Sanfilippo Foundation
Free Educator Guide; Dopamine & Reducing Autism Behaviors + more
Aug 25 2021
Free Educator Guide; Dopamine & Reducing Autism Behaviors + more
Episode 3. In this episode Glenn O’Neill, president and co-founder of Cure Sanfilippo Foundation, talks about publication of a guide for educators and therapists about the important role they play in supporting neurocognitive function and quality of life in children with neurodegenerative diseases and how they can best serve these children in the educational setting, during normal and extenuating circumstances.Special guest Dr. Cara O’Neill, Foundation Chief Science Officer and co-founder, joins to talk about publication of Foundation-supported research that found impacting a specific part of the dopamine pathway reverses and rescues some Autism behavior symptoms (such as hyperactivity, repetitive movements, and socialization) in Sanfilippo Syndrome (MPS III) and Hunter’s Syndrome (MPS II). She shares how follow-up research will look to identify specific drugs that will help impact the dopamine pathway, with reduced side effects, as well as investigate how abnormal heparan sulfate impacts growth factor signaling and other factors in Sanfilippo. All with the hope of this research leading to a clinical trial that will improve the quality of life of children with Sanfilippo.Glenn finishes up talking about Abeona Therapeutics’ encouraging news about MRI imaging data of brain volume in children treated with its gene therapy; the families from around the world reaching out to the Foundation constantly and our gratitude at the ability to provide them with information, support in navigating the landscape, and most importantly … hope; and a resource uniquely for fathers coping and living with a terminal diagnosis of their childWhite Paper - Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders: the full open-access academic paper - Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses: Therapeutics Press Release: Parents Network’s “Being The Dad” recording: Contact@CureSanfilippoFoundation.org