TY - JOUR
T1 - Nusinersen in patients older than 7 months with spinal muscular atrophy type 1
T2 - A cohort study
AU - Aragon-Gawinska, Karolina
AU - Seferian, Andreea M.
AU - Daron, Aurore
AU - Gargaun, Elena
AU - Vuillerot, Carole
AU - Cances, Claude
AU - Ropars, Juliette
AU - Chouchane, Mondher
AU - Cuppen, Inge
AU - Hughes, Imelda
AU - Illingworth, Marjorie
AU - Marini-Bettolo, Chiara
AU - Rambaud, Jerome
AU - Taytard, Jessica
AU - Annoussamy, Melanie
AU - Scoto, Mariacristina
AU - Gidaro, Teresa
AU - Servais, Laurent
N1 - Funding Information:
The authors thank Ilhan Said Ali, Diana-Rose Ho, and Aurelie Chabanon (Institute I-motion) for database management; Khadija Boukouti (Institute I-motion), Anne-Catherine Defeldre (CHR Citadelle Liege), Tamara Dangouloff, Stephanie Raymond, and Sabine Caunois (Kremlin Bicetre Hospital) for coordination of the study; Stephanie Gilabert, Charlotte Lilien (Institute I-motion), Severine Denis, Fabian Del Farra, Oliver Schneider, Ana Ulinici, Erica Marucco (CHR Citadelle Liege), Maya Mahiou, Svetlana Gataullina, Alienor De Chalus, Lorraine Flet Berliac, Helene Armier, Lea Fiedler, Isabelle Bouallaga, Ariane Jaoui, Marjorie Guillaume, Maxime Bacquet (Kremlin Bicetre Hospital), Adnan Manzur, Pinki Munot, and Marion Main (Great Ormond Street Hospital London) for data acquisition; and Jacqueline R. Wyatt for revision of the manuscript. They are grateful to the patients and their parents for participation in the registry. The study is sponsored by Association Institute of Myology and AFM-Telethon.
Funding Information:
K. Aragon-Gawinska received congress funding from SMA Poland Foundation. A. Seferian reports no disclosures relevant to the manuscript. A. Daron is principal investigator in a Roche-and Avexis-sponsored trial. E. Gargaun received travelling and congress funding from Biogen. C. Vuillerot is principal investigator in a Roche-sponsored trial and received consultancy fees from Roche and Biogen. C. Cances, J. Ropars, M. Chouchane, and I. Cuppen report no disclosures relevant to the manuscript. I. Hughes received consultancy fees and traveling and congress funding from Biogen. M. Illingworth received traveling and congress funding from Santhera. C. Marini-Bettolo, received consultancy fees and travelling and congress funding from Biogen. J. Rambaud, J. Taytard, and M. Annoussamy report no disclosures relevant to the manuscript. M. Scoto is coprincipal investigator in the SMA Reach UK study and Roche-sponsored SMA trial and is peer reviewer for SMA Support UK. T. Gidaro reports no disclosures relevant to the manuscript. L. Servais is principal investigator in Biogen-, Roche-, and Avexis-sponsored studies; serves on scientific advisory boards of Biogen, Roche, Avexis, and the SMA foundation; and received honorarium for lectures and consultancies from Roche and Biogen. Go to Neurology. org/N for full disclosures.
Publisher Copyright:
© 2018 American Academy of Neurology.
PY - 2018/10/2
Y1 - 2018/10/2
N2 - Objective To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). Methods Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32). Results We treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene. Conclusions Our results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease.
AB - Objective To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). Methods Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32). Results We treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene. Conclusions Our results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease.
UR - https://www.scopus.com/pages/publications/85053467813
U2 - 10.1212/WNL.0000000000006281
DO - 10.1212/WNL.0000000000006281
M3 - Article
C2 - 30158155
AN - SCOPUS:85053467813
SN - 0028-3878
VL - 91
SP - e1312-e1318
JO - Neurology
JF - Neurology
IS - 14
ER -