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…
News
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…
The European Medicines Agency (EMA) sent written guidance to Seelos Therapeutics, regarding a planned European study of SLS-005 (trehalose) as a treatment for Sanfilippo syndrome types A and B. Seelos will design its open-label, non-placebo controlled, Phase 2b/3 study based on…
First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…
The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…
Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…
Two types of nerve cells, namely neurons and astrocytes, with Sanfilippo syndrome-like characteristics have been created by converting stem cells with disease-associated mutations, according to a study from researchers in Europe. Compared to cell lines currently used in Sanfilippo…
A multiplex test using a drop of dried blood can be used to screen newborns for eight different lysosomal storage diseases, including Sanfilippo syndrome, a new study shows. The study, “Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000…
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