Sanfilippo News

September 16, 2021September 16, 2021

New Institute Aims to Leave No Rare Disease Patient Behind

Sanfilippo News

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest ... Read more

September 9, 2021September 9, 2021

Group Focuses on Rare Disease Clinical Trial Participation

Sanfilippo News

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running ... Read more

September 2, 2021September 2, 2021

Gene Therapies, Ongoing Sanfilippo Research Part of MPS 2021

COVID-19 News, Sanfilippo News

Recent advances in treating people with Sanfilippo syndrome and other mucopolysaccharidoses (MPS) were among topics addressed at the 16th International Symposium of MPS and Related Diseases (MPS 2021). The annual event, held ... Read more

September 2, 2021September 2, 2021

‘Running for Rare’: NORD a Charity Partner of 2021 NYC Marathon

Sanfilippo News

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both ... Read more

August 26, 2021August 26, 2021

‘Pulmonary Insults’ of Sanfilippo Type A May Be Due to Lung Lubricant

Sanfilippo News

Properties of a lubricant of the small air sacs (alveoli) that is essential for normal lung function appear to be altered in Sanfilippo syndrome type A, a study in mice reported. ... Read more

August 26, 2021August 26, 2021

‘Not Alone in the Dark’: New Guide for, by Caregivers of Children With Rare Diseases

Sanfilippo News

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The ... Read more

August 19, 2021August 19, 2021

Register Now for Global Genes’ RARE Patient Advocacy Summit

Sanfilippo News

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending ... Read more

August 19, 2021August 19, 2021

Sanfilippo B Enzyme Replacement Therapy M041 Can Get Into Cells

Sanfilippo News

M041, an enzyme replacement therapy M6P Therapeutics (M6PT) is developing for Sanfilippo syndrome type B, can effectively be transported into cells, proof-of-concept preclinical data show. With data showing such “increased ... Read more

August 12, 2021August 12, 2021

NORD Rare Disease Summit, Online Oct. 18-19, Open for Registration

COVID-19 News, Sanfilippo News

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for ... Read more

August 12, 2021August 12, 2021

MRIs Show Gene Therapy May Boost Brain Volume in Sanfilippo Type A

Sanfilippo News

A single high dose of ABO-102, Abeona Therapeutics’ experimental gene therapy, prevented disease-associated brain shrinkage in three young children with Sanfilippo syndrome type A for up to two years, according to ... Read more

August 5, 2021August 5, 2021

Advocates Lobby US Congress During Virtual Rare Disease Week

COVID-19 News, Sanfilippo News

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the ... Read more

July 29, 2021July 29, 2021

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

Sanfilippo News

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other ... Read more

July 22, 2021July 22, 2021

Partnership Aims to Lower Out-of-Pocket Costs for Rare Disease Meds

Sanfilippo News

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies ... Read more

July 22, 2021July 22, 2021

2 New NAGLU Mutations Possibly Linked to Sanfilippo Type B

Sanfilippo News

Two never-before-reported mutations were found in Sanfilippo syndrome type B patients, with one likely to be disease-causing, a recent study reported. How the other identified mutation relates to this disease is ... Read more

July 15, 2021July 15, 2021

Nominations Open for 2022 Eurordis Black Pearl Awards

Sanfilippo News

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work ... Read more