The following is a library of articles and information shared by the Foundation. Some are insightful and raw insights from our partner families about life with Sanfilippo, others are information about important research happening to find a cure for children with Sanfilippo Syndrome.
Questions?
If you have questions about these articles or anything else, we hope to hear from you. Reach out to us.
Articles & Posts
Denali announces plans to submit IND for ERT therapy DNL126 for Sanfilippo based on preclinical data
In a Feb. 22 press statement, Denali Therapeutics, based in San Francisco, California, announced...
Packed days for Foundation leaders attending WORLDSymposium 2023, including presenting
Page reviewed by: Dr. Cara O'Neill, FAAPPage last updated: March 14, 2023For web accessibility...
WILLPower team raises nearly $50,000 in 2023 The Woodlands Marathon Charity Challenge
It's been 8 years since Valerie and Tim Byers learned that their young son had Sanfilippo...
University of Manchester says gene therapy trial’s early results “show promise”
At WORLDSymposium 2023, Brian Bigger, Chair in Cell and Gene Therapy at University of...
2022 Annual Report: Look what you’ve done to help children with Sanfilippo
In late 2022, we shared with great excitement and appreciation that people's generosity was...
A Natural History Study of Patients With Sanfilippo Disease(s) (MPS3) | Type IIIA, IIIB, IIIC, IIID | Observational Study | Lysosomal Center
Page last updated: January 31, 2023 For web accessibility options: Click/tap the floating blue...
Muskego Girls Basketball Association donates $33,409 from its 2023 “Swish for A Wish” to Saving Liv
The Milawukee-area community continues to rally around the Stoop family and its fight to save...
Foundation’s Cara O’Neill named to FDA and CTTI Patient Engagement Collaborative (PEC)
Dr. Cara O'Neill, the Foundation's co-founder and Chief Science Officer, has been selected by the...
Recent scientific articles relevant to Sanfilippo Syndrome: October-December 2022, digest
Every week thousands of scientific articles on various topics are published. Here are some recent...
A Natural History Study of Sanfilippo Syndrome Type D (MPSIIID) | Type IIID | Observational Study | Phoenix Nest
Page last updated: December 13, 2022 For web accessibility options: Click/tap the floating blue...
Saving Liv video raises $100,000+ in first 36 hours; gathering media attention
Liv's parents give thanks for support of "Saving Liv" Olivia Stoop's parents are on a quest: To...
Saving Liv: Parents hope viral video will save their 3-year-old daughter from Sanfilippo Syndrome
[COLUMBIA, SC] - Today is Olivia “Liv” Stoop’s third birthday. Her “golden birthday.” Her parents...
Podcast Episode 12: New Sanfilippo drug repurposing clinical trial; updates on other research + more
The Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes diving into five hot...
Now available: First-ever Clinical Care Guidelines for Sanfilippo Syndrome
For decades, clinicians and families have lacked clear guidance in making decisions about the...
How rare disease awareness can be blended into Trick-or-Treat fun
Hand out a bit of awareness along with the Halloween candy this yearOne person at a time. Over and...
Recent scientific articles relevant to Sanfilippo Syndrome: September 2022, digest
Every week thousands of scientific articles on various topics are published. Here are some recent...
Recent scientific articles relevant to Sanfilippo Syndrome: August 2022, digest
Every week thousands of scientific articles on various topics are published. Here are some recent...
Testing of optimized gene therapy vector shows positive results in Sanfilippo type B mice
Newly-published research, led by Professor Coy Heldermon at the University of Florida, has...
Sanfilippo parents unite on TikTok to raise $1M in 1 month for research for the deadly childhood disease
TikTok community donates more than $20,000 in 24 hours to support Sanfilippo research Several...
Natural History of Biomarkers & Clinical Outcomes | Type IIIA | Observational Study | Denali
Trial Information Denali Therapeutics is conducting a observational research study, which can also...
Denali sponsoring observational research study (natural history) for Sanfilippo Type A
Denali Therapeutics has provided information about their observational research study natural...
Stories that give us hope: Ryan Dant and MPS I
The above story appeared earlier this week on The Today Show, which has helped raise awareness of...
Recent scientific articles relevant to Sanfilippo Syndrome: July 2022, digest
Every week thousands of scientific articles on various topics are published. Here are some recent...
Help Simon update: New video sharing two miracles; one more needed
When Alina and Jeremy started sharing Simon’s story and his fight with Sanfilippo Syndrome, they...
Researchers publish results of previously-terminated Sanfilippo Type A enzyme replacement study
Study results from Sobi's previously-terminated Sanfilippo Type A enzyme replacement study have...
Sanfilippo research funding available from Foundation
Cure Sanfilippo Foundation now have three funding opportunities available for innovative research...
Replay of ADVANCE 2022, Sanfilippo conference, available on-demand
The virtual ADVANCE 2022, Sanfilippo Community Conference, July 7-8, 2022, brought together...
Registration is open for ADVANCE 2022: Sanfilippo Community Conference
Registration is open for ADVANCE 2022: Sanfilippo Community Conference! A virtual conference on...
Recent scientific articles relevant to Sanfilippo Syndrome: June 9, 2022, digest
Every week thousands of scientific articles on various topics are published. Here are some recent...
Promising results from Lysogene MPS IIIA trial; novel PROVide study collecting observations
Lysogene announced May 18 that its AAVance Phase 2/3 Clinical Trial with Gene Therapy LYS-SAF302...
Caregivers define meaningful, relevant clinical outcome assessments for Sanfilippo Syndrome
Page reviewed by: Dr. Cara O'Neill, FAAP Page last updated: May 19, 2022 For web accessibility...
Sanfilippo Type A gene therapy ABO-102 program will continue, Ultragenyx acquires rights
Funding, endpoints, and more continue to make the road difficult in reaching an approved therapy...
A birthday message to Aidan: “I’ll love you until my last breath and never give up your fight.”
On May 10, Tina Holcomb shared the following words in honor of her son Aidan's 10th birthday in a...
“Strong As a Mother” – A mom’s poem about Sanfilippo Syndrome
This Mother's Day, Lisa Bittner put on a shirt that bore the message, "Strong Like a Mother." As a...
Recent scientific articles relevant to Sanfilippo Syndrome: May 4, 2022, digest
Every week thousands of scientific articles on various topics are published. Here are some recent...
Chive Charities hosts flash fundraiser for “Help Simon” and Cure Sanfilippo
On Tuesday, Chive Charities kicked of a first-of-its-kind fundraiser to help Simon and other...
“Our suffering will prove to be something bigger” shares Sanfilippo mom in podcast
Sara Burroughs, mom of Carson, who is 11 and has Sanfilippo Syndrome, was invited by Brian Roberts...
Would you believe TikTok is filled with kind-hearted people? This family has seen it.
Would you believe me that TikTok is a place filled with amazing, kind-hearted people? I know...
Podcast Episode 11: WORLD highlights, early Anakinra results, new gene therapy trial + more
The Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this...
Community’s vision for Rare Disease Center for Excellence at FDA
The Speeding Therapy Access Today (STAT ACT), H.R. 1730/S. 670, includes creation of a Rare...
2.6M views: TikTok community rallies around ‘Help Simon’ parents hoping to save their little boy, who has amazing basketball skills
A TikTok video has inspired people to donate more than $63,000 in the past six days to the...
O’Neills recognized as Hometown Heroes; share their journey with Sanfilippo
Glenn and Cara O’Neill were recognized by 93.1 The Lake (Columbia, SC) in March as one of its...
Identifying Disease Modifiers in Drosophila Models of Sanfilippo (MPS IIIA)
Grant Summary Institution: Clemson University, South Carolina, U.S. Primary Investigator: Trudy...
Pace of transformative therapies to overwhelm newborn screening process; experts propose innovations
There has been explosive growth in the number of transformative therapies developed for diseases...
Discovery & validation of translational biomarkers for Sanfilippo childhood dementia
Page reviewed by: Dr. Cara O'Neill, FAAP and Jan Kaslin, PhD Page last updated: February 18, 2022...
Book recommendations: Talking to kids about differently-abled people
As a community of differently-abled people, it means so much when folks show love to our children...
Now available: A Global Roadmap For Sanfilippo Syndrome Therapies
Sanfilippo Children’s Foundation (Australia), Cure Sanfilippo Foundation (USA), and other...
Heparan sulfate accumulation identified as “key initiating event” in Alzheimer’s could benefit Sanfilippo research
Thirty years ago, Alan Snow, PhD, and Thomas Wight, PhD, hypothesized that heparan sulfate GAG...
Foundation lends support to Maryland and Mississippi newborn screening legislation
When children with a rare disease are diagnosed at birth, they have the greatest opportunity to...
Podcast Episode 10: Kicking off 2022; upcoming key meeting with FDA; recent grants + more
The year's first (and episode 10) of the Foundation's "A Close Look at Sanfilippo" podcast spends...
How sharing medical records can advance new treatments | AllStripes partnership
Sharing your child’s journey with Sanfilippo can advance new treatments Because Sanfilippo...
Top 5 pages visited on Foundation’s website in 2021
Top-5 lists" are an interesting way to see what is at the forefront of people's minds. Here's a...
Podcast Episode 9: Anakinra Trial update; Collaboration with UNC; other research updates; + more
The Dec. 17, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10...
“Doing nothing is the biggest risk in Sanfilippo”
Sanfilippo Syndrome is ideal for the FDA's Accelerated Approval Pathway. Families are willing to...
Research must begin with understanding a disease’s impact on the people who have it
At the 2021 WORLD Symposium on Lysosomal Diseases, Dr. Cara O’Neill presented the results of the...
Study explores psychological and physiological benefits of music therapy treatment for Sanfilippo
"Music therapy can be a useful form of treatment with multiple benefits for children with...
Help Simon video raises $50,000+ in first week; gathering media attention
"Help Simon," a viral videao aiming to raise $1 million for two promising research pathways for...
Foundation applauds North Carolina lawmakers for newborn screening legislation
Ealier this month, North Carolina Governor Roy Cooper signed critical legislation that updates the...
5-year-old boy’s phenomenal basketball potential will go unrealized unless a treatment is found for Sanfilippo Syndrome
Simon's family is using a viral video to fundraise for research that could lead to the first-ever...
Podcast Episode 8: BIG WEEK! World Sanfilippo Day & viral campaign; Trivia Gala; All Stripes; + more
The Nov. 15, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10...
Podcast Episode 7: Ideal for FDA’s accelerated approval; guide for newly-diagnosed families; + more
The Oct. 27, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10...
Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Sanfilippo
Grant Summary Institution: University of Naples Federico II, Naples, Italy Investigator: Luigi...
Exploring the role of heparan sulfate and dopamine as disease modifiers in Sanfilippo
Grant Summary Institution: Telethon Institute of Genetic Medicine (TIGEM), Pozzouli, Italy...
11-year-old Maine boy raises $3,000 for a Sanfilippo clinical trial to help a fellow Connor
Connor Ridley, an 11-year-old from Maine, is proof that people can make the world a better place,...
Podcast Episode 6: Why a podcast?; Photobiomodulation research; + more
The Oct. 6, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10...
Podcast Episode 5: Patient Needs & Culture of the Laboratory; 2021 Step Up fundraiser + more
The Sept. 21, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10...
Any developmental delay or intellectual disability calls for genome sequencing
The American College of Medical Genetics and Genomics strongly recommends exome and genome...
Using TikTok to spread awareness about Sanfilippo Syndrome
Families seizing new opportunity to create awareness about Sanfilippo TikTok has become a booming...
Podcast Episode 4: Teacher worksheet; Sanfilippo on TikTok + more
The Sept. 7, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10...
Family Friday Blog: The Howard Family
Get to know the Howard family – Chris, Amanda, Abby, Grace, and Blake!Find out what the past year...
Launch of limited edition “Inclusion is Awesome” apparel line
Inclusion is Awesome! Inclusion is powerful. Inclusion is beautiful. Inclusion is important. And...
Podcast Episode 3: Free educator guide; Dopamine & reversing Autism behaviors + more
The Aug. 23, 2021, episode of the Foundation's "A Close Look at Sanfilippo" podcast spends 10...
Worksheet to help your child’s teacher get to know them quickly
"Dear Teacher, I'd like to help you get to know my child" Parents can complete this worksheet to...
Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders
The challenges of the pandemic shined a light on the critical role of special educators and...
Podcast Episode 2: In Memory of Reagan; New testing created; $1M granted for 5 new projects + more
It's been just two weeks since the last episode of the Foundation's "A Close Look at Sanfilippo"...
Family Friday Blog: The Means Family
Get to know the Means family – Mike, Jen, Abigail and Sadie!Find out what the past year has been...
Family Friday Blog: The Bergh-Hansen Family
Get to know the Bergh-Hansen family – Rasmus, Katrine, Molly, and Pelle!Find out what the past...
WATCH: Family video captures Save Connor campaign’s fight to $1 million
The family of Connor Dobbyn created a video time capsule to document the many efforts and many,...
Foundation launches podcast: A Close Look at Sanfilippo in 10 minutes
Cure Sanfilippo Foundation has launched a 10-minute podcast, “A Close Look At Sanfilippo,” to...
Family Friday Blog: The Pearson Family
Get to know the Pearson family – Bruce, Cybill, Simone, Joana, and Solomon! Find out what the past...
New enzyme assay testing method for Sanfilippo created with Foundation funding
A New and Improved Testing Option for Evaluating Potential Drugs for Sanfilippo In the fight to...
Cure Sanfilippo lends support to multiple provisions of Cures 2.0 Act
The 21st Century Cures 2.0 Act legislation from U.S. Representatives Diana DeGette (D-Colorado)...
Family Friday Blog: The Sink Family
Get to know the Sink family – John, Katharine, Declan, and Zane!Find out what the past year has...
Family Friday Blog: The Koch Family
Get to know the Koch family – Matt, Julie, Alex, and Jaxson! Find out what the past year has been...
Cure Sanfilippo agrees: The need to use surrogate biomarkers in an accelerated drug approval pathway for diseases like Sanfilippo
A powerful article from Dr. Emil D. Kakkis outlines the critical need for use of surrogate...
Family Friday Blog: The McKenzie Family
Get to know the McKenzie family – Kirk, Erica, Garrett, Reagan, and baby Ava on the way! Find out...
Save Connor campaign reaches $1 million for first-ever Sanfilippo Type C trial
The parents of Connor Dobbyn have shared a heartfelt message to supporters, announcing that the...
Research: Lysosomal storage disorders with altered heparan sulfate metabolism lead to dopamine-dependent autistic behaviors in Sanfilippo mouse models
A research project co-funded by Cure Sanfilippo Foundation and Sanfilippo Children's Foundation...
Family Friday Blog: The Merrick Family
Get to know the Merrick family – John, Lindsay, Caroline, and Georgia Kate! Find out what the past...
Foundation raises nearly $4 million with three GoFundMe campaigns to cure Sanfilippo Syndrome
Current campaign is nearing the $1 million mark to fund a first-ever clinical trial Cure...
Family Friday Blog: The Burroughs Family
Get to know the Burroughs family – Craig, Sara, Hannah, Addison, and Carson! Find out what the...
World’s first zebrafish model of Sanfilippo: A game-changer in Sanfilippo research
Dr. Jan Kaslin, from the Australian Regenerative Medicine Institute (ARMI), based at Monash...
Family Friday Blog: Loralei’s Family
Get to know Loralei and her family – mom Brandi, stepdad Cody, brothers Brayden and Blayne, and...
Family Friday Blog: The Rixer Family
Get to know the Rixer family – Andreas, Lisa, Saga, Casper, and Maia! Find out what the past year...
Free Guide: Tips to Help Kids Host a Successful Lemonade Stand
Lemonade stands are a hallmark of childhood summers Lemonade stands are a great opportunity for...
Family Friday Blog: The Willich Family
Get to know the Willich family – Jarrod, Megan, Beckett, and Kaisa!Find out what the past year has...
Family Friday Blog: The Shamaly Family
Get to know the Shamaly family – Kerry, Josephine, Alexander, and Ellie! Find out what the past...
Connor’s Crew: Children racing against time to save their best friend’s life
Most 12-year-olds are dreaming of what they want to be when they grow up, navigating school...
Family Friday Blog: The Bittner Family
Get to know the Bittner family – Josh, Lisa, Luke, and Caleb! Find out what the past year has been...
History being made: ScreenPlus, the largest U.S. newborn screening study, includes Sanfilippo
History is being made! Starting this week, newborns in the largest ever U.S. newborn screening...