Phoenix Nest Inc.

ADVANCE 2024's packed agenda is starts today at 10:00 a.m. ET. Don't miss out on all of the Sanfilippo-specific presentations and networking. You can still register for this free, global, community-wide conference at www.ADVANCESanfilippo.com. Day 1's agenda is packed with sessions about: - Immune responses, ethics of dose escalation, and community/patient perspectives on gene therapy risk/benefit & long-term follow up - Affected individuals and families share their personal viewpoints and experiences - Nutrition to support a healthy body and brain - The Eyes Have It: Impact on the retina and monitoring strategies in Sanfilippo disease - The advantages of qualitative interviews in clinical trials

TODAY is the day https://lnkd.in/ebQuRN44 I’m really looking forward to this workshop on qualifying biomarkers (i.e. Heparan Sulfate) neuronopathic mucopolysaccharidoses (MPS’) to support Accelerated Approval! Will the FDA stand behind their own guidance: Slowly Progressive, Low-Prevalence Rare Disease With Substrate Deposition That Result From Single Enzyme Defects? And grant Accelerated Approval to Sanfilippo based on Heparan Sulfate reduction as REASONABLY LIKELY to predict meaningful change? Our MPS community stands united on this sole cause: HS is our surrogate endpoint! Let’s get this done already. Join us virtually!

The Washington Post columnist Theresa Vargas wrote a column on my family regarding the Sanfilippo communities call for the FDA to use Accelerated Approval more broadly.  As of now cancer and infectious diseases receive the vast majority of AA's. https://wapo.st/4a042Rd   Accelerated Approval is granted by the FDA when a clinical trial will take too long to show clinically meaningful change. It can only be granted if the disease has a surrogate endpoint (biomarker) that is disease causing and can be measured in the body. In the case of Sanfilippo that biomarker is Heparan Sulfate (HS). If we can lower the level of HS, it is reasonably likely that the treatment is having a clinical benefit.   AA does 2 things, first it allows patients not in the clinical trial to get access to the drug. Secondly it allows the sponsor or it’s investors to start to recoup some of their costs. It does NOT guarantee full approval. We must still prove clinical benefit in a confirmatory trial. AA literally buys the sponsor more time to follow the patients in the clinical trial. For hyper-rare diseases like the 4 Sanfilippo subtypes AA is a must have.   For those readers that feel the need to tell me that our disease is too expensive to treat or that the FDA is only trying to protect us, please bite your tongue. My son’s private school education alone will cost more than a gene therapy treatment. Secondly, the FDA isn’t saving any lives of Sanfilippo children by not granting AA. A treatment and newborn screening will wipe the disease off the map and save your taxpayer dollars. #AcceleratedApproval #FDA #CDER #CBER

"A successful review division recognizes when a randomized, double-blind, placebo-controlled trial is infeasible or unethical. It does not demand the impossible. It collaborates with the developer on novel trial designs and endpoints that work for the disease and the patient population. A successful review division considers the totality of data before it and does not base its conclusions on rigid all-or-nothing statistical rules, particularly in the context of rare diseases with significant unmet need" -Richard Burr https://lnkd.in/gJ4czuhC