Sanfilippo News

June 9, 2022June 9, 2022

NORD’s ‘Living Rare, Living Stronger’ Patient, Family Forum Set for June 26

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in ... Read more

June 2, 2022June 2, 2022

Study Assesses Caregiver Views to Guide Future Clinical Trial Outcomes

Sanfilippo News

Communication challenges and mobility difficulties are among the most impactful symptoms for children with Sanfilippo syndrome, caregivers reported in a study. Results from the study, which was funded by the ... Read more

May 26, 2022May 26, 2022

Ultragenyx Acquires ABO-102, Potential Sanfilippo Type A Gene Therapy

Sanfilippo News

Ultragenyx Pharmaceutical has closed an agreement giving it global licensing, manufacturing, and commercialization rights to UX111 (formerly ABO-102), an experimental gene therapy for Sanfilippo syndrome type A being tested in the ... Read more

May 12, 2022May 12, 2022

Cure Sanfilippo Funds Work Into Genetic Modifiers of Disease Severity

Sanfilippo News

The Cure Sanfilippo Foundation is supporting a research project that aims to characterize fruit fly models of Sanfilippo syndrome type A, and to identify genes that affect disease development in ... Read more

May 5, 2022May 5, 2022

Man Faced Delay of Nearly 3 Decades for Sanfilippo Type A Diagnosis

Sanfilippo News

Complications shortly after birth and a slow disease progression — combined with poor disease awareness — delayed a correct diagnosis of Sanfilippo syndrome type A for more than two decades ... Read more

April 29, 2022April 29, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

Sanfilippo News

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ... Read more

April 28, 2022April 28, 2022

Changes Seen in Brains of Sanfilippo D Mice May Advance Therapy Work

Sanfilippo News

An examination of brain tissue from a mouse model of Sanfilippo syndrome type D revealed several progressive disease-related features, including the altered degradation of energy-producing mitochondria and the abnormal activation ... Read more

April 21, 2022April 21, 2022

Sanfilippo ‘Brain-in-a-Dish’ Project Entering Therapy Screening Phase

COVID-19 News, Sanfilippo News

Brain-in-a-Dish, a research project that aims to develop patient-derived cell models to study Sanfilippo syndrome and identify potential treatments, is now moving to a therapy screening phase. This research update came ... Read more

April 21, 2022April 21, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

Sanfilippo News

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health ... Read more

April 14, 2022April 14, 2022

Telehealth Added to Latest Digital-friendly NORD State Report Card

COVID-19 News, Sanfilippo News

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues ... Read more

April 7, 2022April 7, 2022

TikTok Community Rallies to ‘Help Simon’ and Find a Treatment

Sanfilippo News

A film crew visited Alina and Jeremy Croke’s Texas home last spring to make a video about their young son, Simon, in hopes of raising $1 million to help find ... Read more

March 31, 2022March 31, 2022

Trial of ABO-102 Gene Therapy Ends Citing No Neurocognitive Benefits

Sanfilippo News

A clinical trial that had been testing the experimental gene therapy ABO-102 in people with advanced syndrome type A has ended after an analysis indicated the therapy was not significantly improving ... Read more

March 25, 2022March 25, 2022

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

Sanfilippo News

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over ... Read more

March 24, 2022March 24, 2022

Scientist Wins Fellowship to Study Commonalities of Sanfilippo and Alzheimer’s

Sanfilippo News

The 2021 Race Against Dementia post-doctoral fellowship has been awarded to scientist Karissa Barthelson, PhD, to investigate the common pathways underlying dementia in Alzheimer’s disease and Sanfilippo syndrome. The outcomes of ... Read more

March 17, 2022March 17, 2022

RaDaR Serves as Starting Point for Creating Rare Disease Registry

Sanfilippo News

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric ... Read more