Rare Diseases
Conference Coverage
Sickle cell disease: Epidemiological change in bacterial infections
Prospective study finds Salmonella to be most common agent responsible for invasive bacterial infection, and calls into question...
News
Sustained long-term benefit of gene therapy for SMA
A particular gene therapy provides long-lasting benefits with a favorable safety profile for children with spinal muscular atrophy, new follow-up...
Conference Coverage
Two treatments show early promise for hypothalamic obesity
Conference Coverage
Gene therapy shows promise for Sanfilippo syndrome
Children who began treatment at younger age fared particularly well.
Conference Coverage
Despite new ichthyosis treatment recommendations, ‘many questions still exist’
“iPLEDGE does impose significant and financial barriers for our patients. More advocacy is needed to adapt that program for our patients.”
Conference Coverage
Hyperphagia, anxiety eased with carbetocin in patients with Prader-Willi syndrome
Conference Coverage
Success in achondroplasia spurs testing vosoritide in more growth disorders
The quality of growth achieved with vosoritide in achondroplasia is leading to studies in more growth disorders.
News
Risdiplam study shows promise for spinal muscular atrophy
Besides safety, exploratory outcomes hint at clinical benefit.
Feature
MIS-C follow-up proves challenging across pediatric hospitals
First came the challenge of figuring out the best treatment regimen for patients with MIS-C. Then physicians had to think about follow-up.
News from the FDA/CDC
FDA approves first targeted treatment for rare DMD mutation
This particular mutation of the DMD gene “is amenable to exon 45 skipping.”
Feature
Dan Kastner wins Crafoord Prize in Polyarthritis
Dr. Kastner received the award for identifying the mechanisms responsible for familial Mediterranean fever, tumor necrosis factor receptor–...