Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Rome, Italy.
Department of Clinical and Experimental Medicine, University of Messina and Centro Clinico Nemo, Messina, Italy.
Neuromuscul Disord. 2018 Jul;28(7):582-585. doi: 10.1016/j.nmd.2018.05.010. Epub 2018 Jun 1.
We report preliminary data on the six month use of Nusinersen in 104 type 1 patients of age ranging from three months to 19 years, 9 months. Ten of the 104 were classified as 1.1, 58 as 1.5 and 36 as 1.9. Three patients had one SMN2 copy, 65 had two and 24 had three copies. In 12 the SMN2 copy number was not available. After six months an improvement of more than two points was found in 58 of the 104 (55.7%) on the CHOP INTEND and in 21 of the 104 (20.19%) on the Hammersmith Infant Neurological Examination (HINE). Changes more than two points were found in 26/71 patients older than two years, and in seven of the 20 older than 10 years. Changes ≥ four points were found in 20/71 older than two years, and in six of the 20 patients older than 10 years. The difference between baseline and six months on both CHOP INTEND and HINE was significant for the whole group (p < 0.001) as well as for the subgroups with two (p < 0.001), and three SMN2 copies (p < 0.001). Our preliminary results suggest that functional improvement can be observed in type 1 patients outside the range of the inclusion criteria used in the Endear study.
我们报告了 104 例年龄在 3 个月至 19 岁 9 个月的 1 型患者使用 nusinersen 6 个月的初步数据。这 104 例中有 10 例为 1.1 型，58 例为 1.5 型，36 例为 1.9 型。3 例患者有 1 个 SMN2 拷贝，65 例有 2 个拷贝，24 例有 3 个拷贝。12 例患者的 SMN2 拷贝数无法获得。6 个月后，104 例患者中有 58 例（55.7%）在 CHOP INTEND 上改善超过 2 分，104 例患者中有 21 例（20.19%）在 Hammersmith 婴儿神经检查（HINE）上改善超过 2 分。在年龄大于 2 岁的 71 例患者中，有 26 例发生变化超过 2 分，在年龄大于 10 岁的 20 例患者中，有 7 例发生变化超过 2 分。在年龄大于 2 岁的 71 例患者中，有 20 例变化超过 4 分，在年龄大于 10 岁的 20 例患者中，有 6 例变化超过 4 分。在整个组中，CHOP INTEND 和 HINE 的基线与 6 个月之间的差异均具有统计学意义（p<0.001），在具有 2 个（p<0.001）和 3 个 SMN2 拷贝的亚组中也具有统计学意义（p<0.001）。我们的初步结果表明，在不在 EnDAR 研究纳入标准范围内的 1 型患者中可以观察到功能改善。
