Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

被引：39

作者：

Pera, Maria Carmela ^{[1
,2
]}

Coratti, Giorgia ^{[1
,2
]}

Bovis, Francesca ^{[3
]}

Pane, Marika ^{[1
,2
]}

Pasternak, Amy ^{[4
]}

Montes, Jacqueline ^{[5
,6
,7
]}

Sansone, Valeria A. ^{[8
]}

Dunaway Young, Sally ^{[9
]}

Duong, Tina ^{[9
]}

Messina, Sonia ^{[10
,11
]}

Mizzoni, Irene ^{[12
]}

D'Amico, Adele ^{[12
]}

Civitello, Matthew ^{[13
,14
]}

Glanzman, Allan M. ^{[15
]}

Bruno, Claudio ^{[16
]}

Salmin, Francesca ^{[8
]}

Morando, Simone ^{[16
]}

De Sanctis, Roberto ^{[2
]}

Sframeli, Maria ^{[10
,11
]}

Antonaci, Laura ^{[1
,2
]}

Frongia, Anna Lia ^{[1
]}

Rohwer, Annemarie ^{[17
,18
]}

Scoto, Mariacristina ^{[17
,18
]}

De Vivo, Darryl C. ^{[5
,6
]}

Darras, Basil T. ^{[4
]}

Day, John ^{[9
]}

Martens, William ^{[18
,19
]}

Patanella, Katia A. ^{[20
]}

Bertini, Enrico ^{[12
]}

Muntoni, Francesco ^{[17
,18
,21
]}

Finkel, Richard ^{[13
,14
]}

Mercuri, Eugenio ^{[1
,2
]}

机构：

[1] Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy

[2] Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy

[3] Univ Genoa, Dept Hlth Sci, Biostat Unit, Genoa, Italy

[4] Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA

[5] Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA

[6] Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10027 USA

[7] Columbia Univ, Dept Rehabil & Regenerat Med, Irving Med Ctr, New York, NY USA

[8] Univ Milan, Niguarda Hosp, Neurorehabil Unit, Neuromuscular Omnictr Clin Ctr, Milan, Italy

[9] Stanford Univ, Dept Neurol, Palo Alto, CA 94304 USA

[10] Univ Messina, Dept Clin & Expt Med, Messina, Italy

[11] Univ Messina, Ctr Clin Nemo Sud, Messina, Italy

[12] IRCCS Bambino Ges Childrens Hosp, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy

[13] Univ Cent Florida, Coll Med, Nemours Childrens Hosp, Orlando, FL 32816 USA

[14] St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA

[15] Childrens Hosp Philadelphia, Dept Phys Therapy, Philadelphia, PA 19104 USA

[16] IRCCS Ist Giannina Gaslini, Ctr Expt & Translat Myol, Genoa, Italy

[17] UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[18] Great Ormond St Hosp Sick Children, London, England

[19] Univ Rochester, Med Ctr, Rochester, NY 14642 USA

[20] Catholic Univ, Inst Neurol, Dept Neurosci, Rome, Italy

[21] NIHR Great Ormond St Hosp, Biomed Res Ctr, London, England

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2021年 / 8卷 / 08期

关键词：

SHAM CONTROL; CHILDREN;

D O I：

10.1002/acn3.51411

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods: Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and 6-Minute Walk Test (6MWT) with a mean follow-up of 1.83 years after nusinersen treatment. Results: Over 75% of the 144 patients had a 12-month follow-up. There was an increase in the mean scores from baseline to 12 months on both HFMSE (1.18 points, p = 0.004) and RULM scores (0.58 points, p = 0.014) but not on the 6MWT (mean difference = 6.65 m, p = 0.33). When the 12-month HFMSE changes in the treated cohort were compared to an external cohort of untreated patients, in all untreated patients older than 7 years, the mean changes were always negative, while always positive in the treated ones. To reduce a selection bias, we also used a multivariable analysis. On the HFMSE scale, age, gender, baseline value, and functional status contributed significantly to the changes, while the number of SMN2 copies did not contribute. The effect of these variables was less obvious on the RULM and 6MWT. Interpretation: Our results expand the available data on the effect of Nusinersen on type III patients, so far mostly limited to data from adult type III patients.

引用

页码：1622 / 1634

页数：13

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