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
Two case reports identify Guillain-Barré variants after SARS-CoV-2 vaccination
Investigators in India and the United Kingdom describe rare presentations of Guillain-Barré syndrome marked by facial paralysis, but evidence of...
Literature Review
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
Gene therapy shows promise for Sanfilippo syndrome
Children who began treatment at younger age fared particularly well.
Supplements
Rare Neurological Disease Special Report
Literature Review
Risdiplam study shows promise for spinal muscular atrophy
Besides safety, exploratory outcomes hint at clinical benefit.
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...