Just a month and a half ago, an opportunity arose to support the creation of a Sanfilippo Type B enzyme replacement drug for future use under an Expanded Access Program. Expanded access (EA) typically allows for broader access without the same restrictive inclusion...
Parent News
November 2025 Sanfilippo Speak explores “total communication” with AAC
What is Alternative and Augmentative Communication (AAC)? What is “total communication”? How can AAC benefit both verbal and nonverbal communicators? How does the progression of Sanfilippo impact a person’s expressive communication skills and what can be done to help...
“FDA’s inaction blocks progress for a cure” says Foundation’s O’Neill in USA Today op-ed
"Right now, 30 million Americans – half of them children – have rare diseases, 95% of which have no approved treatments. That’s why it’s so concerning that progress has been blocked by the recent rash of FDA denials of proposed treatments from drugmakers, despite the...
Neighbors, friends, and more make first Cure Clark 5K a huge success
More than 140 people turn out and help raise more than $10,000 to help children with Sanfilippo SyndromeThe community in the greater Lansing, Michigan, area spent the morning of August 23, 2025, helping a local family raise funds to cure Sanfilippo Syndrome. Japheth...
Foundation’s Dr. O’Neill publishes op-ed in The Hill, urging FDA to act
“The FDA must now ensure that its commitment to safety and efficacy is balanced with the urgency of patient need and the relentless progression of serious rare diseases. Action is needed now — before more life-saving therapies, and the patients who need them, fall...
Ultragenyx provides additional information regarding its UX111 program for Sanfilippo Type A
Ultragenyx Pharmaceutical Inc. has provided additional information regarding its UX111 gene therapy program for Sanfilippo Type A and the Complete Response Letter (CRL) it received from the U.S Food & Drug Administration (FDA) in July. They created a document...
Ambroxol Hydrochloride | MPS IIIA, IIIB, IIIC, IIID | Phase II-III | Lysosomal & Rare Disorders Research & Treatment Center
Page last updated: August 20, 2025 For web accessibility options: Click/tap the floating blue icon on the right.Trial Information Study title: An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol...
Action needed today: Senators need to hear from you
Good news and an urgent request to take action immediately … Two days ago, the Give Kids A Chance Act was unanimously passed by the House Energy and Commerce Committee and also by the full U.S. House of Representatives. This bill includes a 5-year renewal of the Rare...
Opportunity for Action: Ask Congress to Support Creating Hope Reauthorization Act/PRV
The Rare Disease Pediatric Review Voucher (PRV) is set to expire in late September. This would not be good for the rare disease community. The Foundation's thoughts on the PRV are: Pediatric Rare Disease Priority Review Voucher (PRV) program is a critical incentive to...