Sanfilippo News

June 17, 2021June 17, 2021

Get Ready for NORD’s Patient and Family Forum, Set for June 26-27

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the ... Read more

June 17, 2021June 17, 2021

‘Connor’s Crew’ on Board to Save Their Friend’s Life

Sanfilippo News

They aren’t even teenagers yet, but Connor Dobbyn’s closest friends are engaged in a a most serious effort — to save their’s buddy’s life. The half-dozen or so 12-year-olds have ... Read more

June 10, 2021June 10, 2021

Rare 2030 Action Campaign Pushing for European Plan for Rare Diseases

Sanfilippo News

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in ... Read more

June 4, 2021June 4, 2021

Advocates Can Try for Grants Ahead of Rare Disease Week on Capitol Hill

Sanfilippo News

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in ... Read more

June 3, 2021June 3, 2021

Carriers Likely Not at Higher Risk of Adult-onset Dementia

Sanfilippo News

Sanfilippo carriers likely are not at an increased risk of developing adult-onset dementia or other neurodegenerative conditions, despite earlier clinical evidence suggesting such a predisposition, a new study in mice ... Read more

May 20, 2021May 20, 2021

EMDR May Be Effective for Treating Parents’ PTSD

Sanfilippo News

Eye Movement Desensitization and Reprocessing (EMDR) can help to ease symptoms of post-traumatic stress disorder (PTSD) in parents of children with Sanfilippo syndrome, a case study suggests. The study, “Reducing ... Read more

May 13, 2021May 13, 2021

May 15 Is International MPS Awareness Day

COVID-19 News, Sanfilippo News

From “getting messy” in a workshop to participating in an art class, supporters globally are marking MPS Awareness Week, observed May 10-16. May 15 is International MPS Awareness Day. Awareness ... Read more

May 6, 2021May 6, 2021

Pilot Newborn Screening for Sanfilippo Type A, B Launches in New York

Sanfilippo News

The U.S.’ largest pilot newborn screening program for multiple disorders, including Sanfilippo syndrome type A and type B, has launched across eight hospitals in New York. The new screening test ... Read more

April 29, 2021April 29, 2021

New Research Will Test CLR01 ‘Molecular Tweezer’ in Sanfilippo Models

Sanfilippo News

A newly funded research study will test whether an investigational therapy dubbed a “molecular tweezer” — officially called CLR01 — might ease symptoms of Sanfilippo syndrome in preclinical models. The ... Read more

April 22, 2021April 22, 2021

Quick Approval Given COVID Vaccines Raise Concerns, Rare Disease Patients Say

COVID-19 News, Sanfilippo News

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine ... Read more

April 22, 2021April 22, 2021

#AANAM – Gene Therapy Shows Promise in Early Type A Disease

Sanfilippo News

Treatment with ABO-102, an investigational gene therapy being developed by Abeona Therapeutics, normalized development in children with Sanfilippo syndrome type A, according to new data from a clinical trial. The ... Read more

April 15, 2021April 15, 2021

Autophagy-targeting Compound Fails to Reduce Heparan Sulfate in Mice

Sanfilippo News

An investigational compound that targets dysfunctional or improperly working autophagy — the removal of unnecessary or damaged cell components — may improve that process and reduce inflammation in a mouse ... Read more

April 15, 2021April 15, 2021

EveryLife Scholarship Fund Open Until May 7 for Adults With Rare Diseases in US

COVID-19 News, Sanfilippo News

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a ... Read more

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