Rare Diseases
From the Journals
Novel gene therapy ‘reprograms’ cells to reverse neurologic deficits in children with rare disease
Months after surgery to deliver a gene therapy, children saw complete resolution of oculogyric crises, a hallmark of their disease, and were able...
From the Journals
U.S., international MIS-C studies yield disparate results
The two real-world observational studies were published online in The New England Journal of Medicine.
Conference Coverage
Secukinumab provides clinical benefit in phase 3 juvenile arthritis trial
Phase 3 trial shows secukinumab is effective for enthesitis-related arthritis and juvenile psoriatic arthritis in children.
Conference Coverage
EULAR, ACR present preliminary recommendations for rare genetic autoinflammatory diseases
Recent genetics research into several rare autoinflammatory diseases has provided enough data for EULAR and ACR to issue the first recommendations...
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.