Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect…
Articles by Marisa Wexler, MS
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like…
Problems with one or more senses are common in people with Sanfilippo syndrome and other mucopolysaccharidoses (MPSs), but…
Seelos Therapeutics announced it has received a positive opinion on an orphan drug designation for SLS-005 (trehalose)…
An ongoing clinical trial is investigating an approved anti-inflammatory compound anakinra, sold under the brand name Kineret, as a potential treatment for…
A multiplex test using a drop of dried blood can be used to screen newborns for eight different lysosomal storage…
Injecting BMN 250 — a potential enzyme replacement therapy for Sanflippo type B — directly into the fluid around the…
The accumulation of heparan sulfate in Sanfilippo syndrome type B can alter sulfur metabolism in the body, which seems…