Rare Diseases
Conference Coverage
Tofacitinib improves disease activity in patients with polyarticular-course JIA
ATLANTA – The phase 3 trial looked at flare rate out to 44 weeks after patients first met response criteria following 18 weeks of open-label...
Conference Coverage
AVXS-101 may result in long-term motor improvements in SMA
CHARLOTTE, N.C. – Data indicate continuous expression of the SMN protein among treated patients.
Conference Coverage
Ataluren shows real-world benefit for nonsense mutation Duchenne muscular dystrophy
AUSTIN, TEX. – Side effects in children taking ataluren were primarily gastrointestinal upset, headache, and...
Conference Coverage
Families face challenges of gene therapy
Patients and manufacturers continue on a learning curve to improve trial designs and patient experiences.
Conference Coverage
Experts address barriers to genetic screening
WASHINGTON – Panel explores clinical implications of removing barriers to genetic testing for newborns and carriers.
Supplements
Rare Pediatric Diseases Special Report 2019
Conference Coverage
Baricitinib may benefit patients with Aicardi-Goutières syndrome
CHARLOTTE, N.C. – A compassionate use trial indicates that JAK inhibition may have a role in the treatment of genetic interferonopathies.
News from the FDA/CDC
FDA approves rituximab to treat children with rare vasculitis
From the Journals
Anakinra treatment for pediatric ‘cytokine storms’: Does one size fit all?
A retrospective cohort study saw mortality reduced if anakinra was administered early to treat sHLH/MAS. But experts caution that anakinra may not...
From the Journals
Juvenile dermatomyositis derails growth and pubertal development
Delayed puberty and growth failure were observed in children with juvenile dermatomyositis.
From the Journals
New genotype of S. pyrogenes found in rise of scarlet fever in U.K.