by Madaline Spencer | Apr 8, 2024
Julia Alton, Executive Director at the Canadian Fabry Association, discusses the organization’s mission and their initiatives. Fabry disease is a lysosomal storage disease characterized by insufficient alpha-galactosidase (alpha-GAL). The deficiency of...
by Madaline Spencer | Apr 4, 2024
The U.S. Food and Drug Administration (FDA) has recently awarded Rare Pediatric Disease Designation for TNX-2900 (intranasal potentiated oxytocin) for the treatment of Prader-Willi Syndrome (PWS). PWS is a genetic condition caused by missing or...
by Madaline Spencer | Apr 4, 2024
Petra Oliva, PhD, Archimed Life Science, discusses newborn screening for metachromatic leukodystrophy (MLD). MLD is a genetic disorder caused by mutations in the ARSA or PSAP genes, which result in a deficiency of the enzyme arylsulfatase A and a...
by Madaline Spencer | Apr 3, 2024
Leslie Urdaneta, Director of Family Support and Communication at the National MPS Society, discusses methods to start conversations about palliative care with families. Ms. Urdaneta describes the importance of starting palliative care conversations in...
by Madaline Spencer | Apr 2, 2024
The U.S. Food and Drug Administration (FDA) has granted orphan drug designation and pediatric exclusivity to CRESEMBA (isavuconazonium sulfate) for treatment of invasive aspergillosis (IA) and invasive mucormycosis (IM) in pediatric patients. ...
