Sanfilippo News

April 8, 2021April 8, 2021

Next-gen Sanfilippo Type A Gene Therapy May Move Into Clinical Trial

Sanfilippo News

Following the promising results of a second-generation gene therapy in a mouse model of Sanfilippo syndrome type A, a first trial in patients might be launched this year. The Sanfilippo Children’s Foundation ... Read more

April 1, 2021April 1, 2021

Gene Therapies for Sanfilippo Type A, B Show Promise in Early Trials

Sanfilippo News

A single dose of Abeona Therapeutics’ investigational gene therapy ABO-102 safely preserved normal cognitive development for up to three years in young children with Sanfilippo syndrome type A, according to ... Read more

March 30, 2021March 30, 2021

Cost of Rare Diseases in US? Nearly $1 Trillion in 2019, EveryLife Foundation Finds

Sanfilippo News

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of ... Read more

March 25, 2021March 25, 2021

MPS Society to Use £195,000 Grant to Reduce UK Patient Isolation

COVID-19 News, Sanfilippo News

The MPS Society will use a £195,000 (about $268,000) award from the National Lottery Community Fund to build connections and reduce feelings of isolation — largely caused by the COVID-19 ... Read more

March 18, 2021March 19, 2021

Gene Therapy LYS-SAF302 Continuing to Help Sanfilippo Type A Children in Trial

Sanfilippo News

LYS-SAF302, Lysogene’s experimental gene therapy for Sanfilippo syndrome type A, effectively lowered the levels of three disease biomarkers — GM2, GM3, and heparan sulfate (HS) — for up to one ... Read more

March 11, 2021March 11, 2021

Metabolic Disorders May Underlie Some Diagnosed Autism Cases

Sanfilippo News

Genetic metabolic diseases, such as Sanfilippo syndrome, may underlie an autism spectrum disorder (ASD) diagnosis, especially when accompanied with additional symptoms, according to a case series in Turkey. The data ... Read more

March 8, 2021March 8, 2021

Pink, Green, Blue and Purple Lights Illuminated World for Rare Disease Day

COVID-19 News, Sanfilippo News

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, ... Read more

March 4, 2021March 4, 2021

‘Save Connor’ Campaign Ramps Up Ahead of Deadlines

Sanfilippo News

Impassioned videos, including a new one about a 12-year-old who has Sanfilippo syndrome and his parents’ battle to save him, have raised more than $400,000 toward an unprecedented clinical study that ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

COVID-19 News, Sanfilippo News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 26, 2021February 26, 2021

Sanfilippo Linked for 1st Time With Changes in Blood Pressure

Sanfilippo News

Sanfilippo syndrome’s characteristic buildup — to toxic levels — of the complex sugar molecule heparan sulfate appears to affect the production of aldosterone, a hormone that controls blood pressure, leading to serious ... Read more

February 22, 2021February 22, 2021

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

COVID-19 News, Sanfilippo News

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a ... Read more

February 18, 2021February 18, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

Sanfilippo News

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare ... Read more

February 11, 2021February 11, 2021

Cure Sanfilippo Foundation Heralds New Awareness Day in Ohio

Sanfilippo News

For nearly two years, an Ohio couple shared the heartbreaking story of their young son’s diagnosis with Sanfilippo syndrome, seeking to raise awareness about the rare genetic disease they had ... Read more

February 10, 2021February 10, 2021

Pandemic Won’t Stop Rare Disease Day on Feb. 28

COVID-19 News, Sanfilippo News

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the ... Read more

February 4, 2021February 4, 2021

Cure Sanfilippo Foundation Presenting at WORLDSymposium 2021

COVID-19 News, Sanfilippo News

The Cure Sanfilippo Foundation will be among those presenting posters at the WORLDSymposium 2021 conference on lysosomal storage disorders such as Sanfilippo syndrome, held virtually Feb. 8–12. “This is the ... Read more