we would like to drive your attention to the recent developments in Spinal Muscular Atrophy. Two different approaches (use of antisense oligonucleotides and genetic therapy with a viral insertion) have been both demonstrated to be helpful, allowing SMA children to reach motor milestones that have never been seen before in the natural history of the disease.
We believe that these results should also represent a model for other rare disease (not only in the neuromuscular field), and a powerful stimulation for young neurology researchers.
1-Mendell JR1, Al-Zaidy S1, Shell R1 et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1713-1722.
2-Finkel RS1, Mercuri E1, Darras BT1 et al. ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1723-1732. )