Rare Diseases
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.”
Literature Review
New steroid dosing regimen for myasthenia gravis
Rapid tapering of prednisone is recommended in patients requiring combined corticosteroid and azathioprine therapy.
Conference Coverage
Childhood Hodgkin survivors have neurocognitive impairment
Conference Coverage
Gene-replacement therapy shows promise in X-linked myotubular myopathy
An investigational gene therapy decreases ventilator dependence and may improve motor development in children with a rare, life-threatening...
Conference Coverage
Ataluren delays disease milestones in patients with nonsense mutation DMD
Patients who received ataluren in addition to standard of care were 2.2 years older when they lost ambulation, compared with patients receiving...
Conference Coverage
Nusinersen provides continued benefits to presymptomatic children with SMA
Most children developed normally in an interim analysis of the NURTURE trial that did not find any new safety concerns.
Conference Coverage
CBD for LGS: Fewer seizures, but thrombocytopenia risk
Cannabidiol reduces seizures in Lennox Gastaut syndrome out to 3 years, but has been linked to thrombocytopenia in children also on valproic acid...
Conference Coverage
NMOSD challenges in children
Neuroimmunologists discuss key diagnosis and treatment strategies.
Literature Review
Drug combo slows functional decline in ALS
Patients who received the drug combination “retained higher levels of physical function over 6 months compared with those who received placebo.”...
From the Journals
TNF inhibitors linked to inflammatory CNS events
The authors do not caution “against using these therapies in appropriate patients,” and it is unclear whether this association “represents de novo...
Literature Review
COVID-19 linked to development of myasthenia gravis
Italian researchers report three cases of myasthenia gravis onset after COVID-19 infection.