Influencing the Community Working on a Cure
Curing Sanfilippo is our ultimate goal, but your support also allows us to play a critical roll in influencing the road that leads there.
The path from identifying symptoms to diagnosis to evaluating treatments needs to be as direct as possible and filled with accurate and patient-centric information for families, scientists, physicians, and regulators.
The following are projects led or supported by the Foundation that promote valuable, disease-specific and patient-preference information about Sanfilippo Syndrome, benefiting the scientific and medical communities as well as caregivers.
Projects To Influence Thinking
Cure Sanfilippo joins in calling for addition to Cures 2.0 legislation
Cure Sanfilippo Foundation is one of 46 patient advocacy organizations to sign-on to a letter asking U.S. Representatives Diana DeGette (D-Colorado) and Fred Upton (R-Michigan) to include H.R. 4144 - Ending the Diagnostic Odyssey Act in the Cures 2.0 legislation. The...
Foundation contributes to published list of early symptoms of MPS III
Cure Sanfilippo Foundation Chief Science Officer Cara O'Neill, MD, FAAP, and Board Member Valerie Byers, PhD, are among the contributors of a newly-published paper that identifies the most-important, early symptoms of Mucopolysaccharidosis III (MPS III) to assist...
Combined response to FDA draft guidance on drug development
On May 5, Cure Sanfilippo Foundation submitted the combined Sanfilippo Patient Advocacy Group Response to the U.S. Food And Drug Administration's (FDA) February draft guidance regarding the development of drugs to treat MPS III (Sanfilippo Syndrome). The 39-page...
Sanfilippo caregivers invited to take RDCRN coronavirus survey
The novel coronavirus pandemic can have a serious impact on people with rare diseases and their families. Yet, not much is known about it. The Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH), is conducting a...
Survey: Caring For A Child With Rare Genetic Disorder During COVID-19
Families with a rare genetic disorder such as Sanfilippo Syndrome will have a different experience than others during the COVID-19 emergency. Scientists at UCLA are working directly with families to better understand specific challenges and when they occur by...
What does “better” mean and who gets to decide that?
Dr. Cara O'Neill, Chief Science Officer for Cure Sanfilippo Foundation, posed this question regarding study endpoints to an audience of before the audience of research scientists, biotech leads and industry partners, physicians, U.S. Food & Drug Administration...
Caregiver Preference Study for Sanfilippo presented to FDA
The urgent mission to save children from the fatal and rapidly-degenerative disease Sanfilippo Syndrome must continue because the disease's devastating effects never stop, no matter what else is happening in the world. With this mindset, Cure Sanfilippo Foundation and...
Why and how to achieve novel outcomes in neurodegenerative gene therapy trials
Picking outcome measures for neurodegenerative gene therapy trials in rare disease is difficult. The conditions often have a lot of heterogeneity, relatively small sample sizes, and rarely disease-specific outcome measures. That is why "outside the box" thinking is...
Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo
Caregivers for children with Sanfilippo Syndrome face a unique set of challenges because of the disease's complex nature. There is little understanding among clinicians of the family experience of caring for patients with Sanfilippo and how a caregiver's experiences...
Speeding Diagnosis of Rare Diseases By Empowering Pediatricians
First-Ever Collaboration: Pilot Program Giving Pediatricians Direct Access to Geneticists so Rare Diseases Are Diagnosed Accurately and Early Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this...
Creation of Global Clinical Guidelines for Sanfilippo Syndrome
Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome in partnership with the Sanfilippo Children’s Foundation (Australia). Best-practice guidelines for clinical care are critical for...
Caregiver Preference Study for Sanfilippo Syndrome
Cure Sanfilippo Foundation is working to publish the first-ever Caregiver Preference Study for Sanfilippo Syndrome. It will include what parents consider “meaningful benefit,” as well as an exploratory staging tool.The aim of the Caregiver Preference Study is to help...
Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome
Cure Sanfilippo Foundation is collaborating with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.One way to...