Sanfilippo News

January 14, 2021January 14, 2021

Gene Therapy With More Effective Carrier Shines in Mouse Study

Sanfilippo News

A gene therapy delivered through a more effective viral carrier safely and effectively corrected enzymatic deficiency, restored cognitive and motor function, and improved survival in a mouse model of Sanfilippo ... Read more

January 7, 2021January 7, 2021

Retina May Be a ‘Window’ to Watch Sanfilippo Progression

Sanfilippo News

Looking at the tissue of the retina — the innermost, light-sensitive layer of the eye — may be a way to monitor Sanfilippo progression and treatment outcomes, a study has found. In ... Read more

December 17, 2020December 18, 2020

Potential Gene Therapy OTL-201 Helps First Patient Dosed

Sanfilippo News

Preliminary results from the first patient treated with Orchard Therapeutic’s OTL-201 show that the investigational gene therapy can increase the levels of sulfamidase — the missing enzyme in Sanfilippo syndrome ... Read more

December 10, 2020December 10, 2020

Australian Researchers Will Use Grant to Target Immune System in Search of Therapies

Sanfilippo News

The Sanfilippo Children’s Foundation, in Australia, has awarded AU$355,000 (about USD$267,000) for a two-year project to determine whether medicines targeting the immune system could be used to treat children with ... Read more

December 3, 2020December 3, 2020

Foundation Seeks to Educate With Fact Sheets About Current Clinical Trials

Sanfilippo News

Clinical trials are an essential step in treatment development, yet the many people they could potentially help are either unfamiliar with the studies or unsure about what they entail. To ... Read more

November 26, 2020December 28, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

COVID-19 News, Sanfilippo News

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a ... Read more

November 19, 2020December 20, 2020

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

Sanfilippo News

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how ... Read more

November 19, 2020November 19, 2020

Taysha, Invitae Partner to Offer Genetic Testing for Lysosomal Storage Disorders, Epilepsy

Sanfilippo News

Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure programs by offering free genetic testing to patients. ... Read more

November 12, 2020November 12, 2020

Cause of Death Unknown in Child Participating in LYS-SAF302 Gene Therapy Trial

Sanfilippo News

One of the children participating in the Phase 2/3 trial of LYS-SAF302, Lysogene’s gene therapy candidate for Sanfilippo syndrome type A, has died. The exact cause of death is currently ... Read more

November 5, 2020November 5, 2020

Hearing Loss Common in Young Patients With MPS Disorders, Study Finds

Sanfilippo News

Hearing loss is the most common auditory complaint among young patients with different forms of mucopolysaccharidosis (MPS), including Sanfilippo syndrome, a small study suggests. According to investigators, these findings highlight the ... Read more

October 29, 2020October 29, 2020

‘Save Connor’ Video Raising Funds for First-ever Clinical Trial in Sanfilippo Type C

Sanfilippo News

An emotional video about a boy with Sanfilippo syndrome and his parents’ fight to save him has raised about $244,000 toward a first-ever clinical trial that could give the youngster and ... Read more

October 27, 2020November 28, 2020

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

Sanfilippo News

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in ... Read more

October 15, 2020October 15, 2020

Supporters Gear Up for Nov. 16 – World Sanfilippo Awareness Day

Sanfilippo News

On Nov. 16, World Sanfilippo Awareness Day, supporters will bring global attention to the rare neurodegenerative disorder, hopefully sparking conversations globally about the community and its needs. From sharing images ... Read more

October 8, 2020November 8, 2020

Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos

COVID-19 News, Sanfilippo News

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, ... Read more

October 1, 2020October 1, 2020

Early Diagnosis of Sanfilippo Syndrome Type C Difficult But Key, Report Shows

Sanfilippo News

An accurate and early diagnosis of Sanfilippo syndrome type C can be difficult, as this subtype is quite rare, but important to prevent life-threatening complications and improve life quality, a case ... Read more