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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: [email protected]
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
#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: [email protected]
Follow Cure Sanfilippo Foundation:
#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast -
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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: [email protected]
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 -
EPISODE 9: “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 Dr. Cara O’Neill, Chief and co-founder of Cure Sanfilippo Foundation, gives a year-end update on some important projects including the Anakinra clinical trial underway, funded fully by kind supporters of the Foundation. She goes on to talk about the UNC collaboration, other promising research, international collaborations, advocacy projects like addressing educational challenges and global clinical guidelines. She then talks about the Foundation's focus in 2022.
Glenn then talks about the Foundation history and impact from viral videos, and introduces the new Help Simon video launched.
Watch & Share Helps Simon: https://www.HelpSimon.com
Participate in AllStripes: https://www.allstripes.com/sanfilippo
Questions: [email protected]
Website: https://www.curesanfilippofoundation.org
Follow Cure Sanfilippo Foundation:
Facebook: https://www.facebook.com/CureSanfilippoFoundation
Twitter: https://twitter.com/CureSanfilippoF
Instagram: https://www.instagram.com/curesanfili...
TikTok: https://www.tiktok.com/@curesanfilippo
#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast #HelpSimon
Music credit: Springish by Gillicuddy
(https://freemusicarchive.org/music/gi...)
© 2021 Copyright reserved Cure Sanfilippo Foundation -
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 with
Sanfilippo.
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: https://CureSanfilippoFoundation.org/...
Register for Merry & Bright Trivia Gala Night: https://give.curesanfilippofoundation...
Participate in AllStripes: https://www.allstripes.com/sanfilippo
Questions: [email protected]
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
#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast #HandsOfHope #WorldSanfilippoDay #HelpSimon
Music credit: Springish by Gillicuddy
(https://www.freemusicarchive.org/musi...)
© 2021 Copyright reserved Cure Sanfilippo Foundation -
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: https://everylifefoundation.org/event...
Request the Guide for Newly-Diagnosed Families: https://www.CureSFF.org/FamilyGuide
List of Foundation’s funded research grants: https://www.CureSFF.org/Grants
World Sanfilippo Awareness Day information: https://www.CureSFF.org/WSAD
Questions: [email protected]
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
#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast
Music credit: Springish by Gillicuddy
(https://www.freemusicarchive.org/musi...)
© 2021 Copyright reserved Cure Sanfilippo Foundation -
Episode 6. “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 the inspiration and “why” behind creating a Foundation podcast; how the Step Up virtual steps challenge is shaping up for 2021 and how you can be a part of it; a recently co-funded research project at the University of Sydney to see if photobiomodulation, which has been explored as a therapy for several other neurodegenerative diseases, could provide multiple benefits in Sanfilippo; why so much money is needed for disease research; and the upcoming World Sanfilippo Awareness Day (Nov. 16) and it’s importance to the global community of families of children with Sanfilippo.
#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast
Syngap Research Fund - SRF Save Mickey Association: Curing Sanfilippo Together Oliver's Tomorrow
© 2021 Copyright reserved Cure Sanfilippo Foundation
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Episode 5: “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 a recent presentation by Foundation Chief Science Officer Cara O’Neill, MD, FAAP, who offered multiple recommendations on how the “culture of the laboratory” can better integrate the true needs of patients, a facet of research that is sorely lacking. Additionally, Glenn talked about the kickoff of the 2021 Step Up to Cure Sanfilippo steps challenge and how people are using their steps to help children who have a disease that literally robs them of the ability to walk. He also addresses how newborn screening for Sanfilippo would be a “game changer” and the Foundation’s support of a newborn screening pilot in New York. Glenn also touches on the more than 100 partner families from around the world joining the Foundation and creation of a Professional Advisory Board to allow volunteers to lend their professional expertise to achieving the Foundation’s mission.
#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast #NewbornScreening #2021NBS
© 2021 Copyright reserved Cure Sanfilippo Foundation
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Episode 4: “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 a free worksheet perfect for helping your child’s new teachers get to know them quickly so they build that critical rapport earlier; Guest Mom Noelle Karina Pacl tells us about sharing their son Logan's life with Sanfilippo on TikTok, and how it has built a following of more than 1.5 MILLION followers; why the Foundation completes the arduous process of an annual independent audit; how loyal supporters lift families’ spirits with their devotion and create a critical sustainable stream of income that enables the Foundation better plan what research it can fund next; and how we’re helping people celebrate the power of inclusion with a limited-edition collection of fun gear that also helps fund the mission to cure for Sanfilippo. -
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 child
White Paper - Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders: https://www.CureSFF.org/article3
Read the full open-access academic paper - Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses: https://www.sciencedirect.com/science...
Abeona Therapeutics Press Release: https://investors.abeonatherapeutics....
Courageous Parents Network’s “Being The Dad” recording: https://courageousparentsnetwork.org/...
Questions: [email protected] -
Episode 2. "A Close Look At Sanfilippo” is a regular 10-minute podcast covering five 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, remembers and honors Reagan McGee; talks about how a new tool to test drugs that can lessen the buildup of heparan sulfate; gives a sneak peek into the face of the Foundation’s next video campaign, coming out later this year; shares how the Foundation is walking the walk to ensure information accessibility; and details the Foundation’s latest grant round of more than $1 million in funding for five new research projects to help children with Sanfilippo.
Information about the new testing assay: https://www.CureSFF.org/article2
Questions: [email protected]
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
#CureSanfilippo #RareDisease #ACureCantWait #ACloseLook #Podcast
Music credit: Springish by Gillicuddy (https://www.freemusicarchive.org/musi...)
© 2021 Copyright reserved Cure Sanfilippo Foundation -
Episode 1. “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 the Foundation's application for the Chan Zuckerberg Initiative Rare As One grant and how it could accelerate several global key research and collaboration projects; how use of biomarkers to approve a new Alzheimer’s drug could open doors for Sanfilippo and other degenerative diseases that can’t wait for “just perfect” options; how families of children with Sanfilippo sharing their medical records can accelerate scientists’ development of trials and treatments; the many ways people are fundraising and supporting the Foundation, enabling it to continue its mission to find a treatment or cure; and an update on the Anakinra clinical trial’s initial indicators and what comes next.
Dr. Emil Kakkis article: https://www.CureSFF.org/article
For families to join AllStripes data collection: https://www.AllStripes.com/Sanfilippo
Questions/Comments: [email protected]
Follow and/or support Cure Sanfilippo Foundation:
Website: www.CureSanfilippoFoundation.org
Music credit: Springish by Gillicuddy (https://www.freemusicarchive.org/musi...)
© 2021 Copyright reserved Cure Sanfilippo Foundation
