News

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Seelos Therapeutics‘ SLS-005 (trehalose) to treat Sanfilippo syndrome, the company has announced. Orphan drug designation aims to encourage the development of therapies for rare and serious diseases, through benefits such as seven years of market…

Orchard Therapeutics announced the dosing of a first patient in a clinical trial evaluating its investigational cell-based gene therapy OTL-201 for Sanfilippo syndrome type A. OTL-201’s safety, tolerability, and efficacy is being investigated in the open-label, Phase 1/2 study (NCT04201405) taking place at Manchester University NHS…

FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

An 11-year-old girl with Sanfilippo syndrome type A who received a stem cell transplant as an infant maintained her cognitive skills and motor function, and improved her quality of life compared to six children who did not have the transplant, a case study reports. In the…

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship is meant to help bring down barriers to genetic diagnoses and counseling for lysosomal storage diseases…

Mucopolysaccharidosis (MPS) type IVA (Morquio A syndrome) is the most common type of MPS in Mexico, followed by MPS type III (Sanfilippo syndrome), according to five-year data of enzymatic activity tests at a reference center. These findings are in contrast with what is reported for most countries, where…

Researchers have developed an efficient way of screening newborns for eight lysosomal storage diseases — including five mucopolysaccharidosis (MPS) disorders — at the same time, a large Taiwanese study shows. The work suggests that this method could be used in newborn screening around the world to detect these disorders and initiate appropriate…