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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

Standard

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany. / Pechmann, Astrid; Langer, Thorsten; Schorling, David; Stein, Sabine; Vogt, Sibylle; Schara, Ulrike; Kölbel, Heike; Schwartz, Oliver; Hahn, Andreas; Giese, Kerstin; Johannsen, Jessika; Denecke, Jonas; Weiß, Claudia; Theophil, Manuela; Kirschner, Janbernd.

in: J NEUROMUSCULAR DIS, Jahrgang 5, Nr. 2, 2018, S. 135-143.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Pechmann, A, Langer, T, Schorling, D, Stein, S, Vogt, S, Schara, U, Kölbel, H, Schwartz, O, Hahn, A, Giese, K, Johannsen, J, Denecke, J, Weiß, C, Theophil, M & Kirschner, J 2018, 'Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany', J NEUROMUSCULAR DIS, Jg. 5, Nr. 2, S. 135-143. https://doi.org/10.3233/JND-180315

APA

Pechmann, A., Langer, T., Schorling, D., Stein, S., Vogt, S., Schara, U., Kölbel, H., Schwartz, O., Hahn, A., Giese, K., Johannsen, J., Denecke, J., Weiß, C., Theophil, M., & Kirschner, J. (2018). Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany. J NEUROMUSCULAR DIS, 5(2), 135-143. https://doi.org/10.3233/JND-180315

Vancouver

Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U et al. Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany. J NEUROMUSCULAR DIS. 2018;5(2):135-143. https://doi.org/10.3233/JND-180315

Bibtex

@article{3175fb4467c648919e97df0d5f5b48de,
title = "Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany",
abstract = "BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA.OBJECTIVE: Prior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen.METHODS: We conducted a prospective, longitudinal data collection of patients treated with nusinersen within the EAP in seven neuromuscular centers in Germany. Standardized assessments including CHOP-INTEND and HINE-2 motor milestones were performed at baseline and 60 and 180 days after start of treatment.RESULTS: Data from 61 SMA type 1 patients (mean age 21.08 months, range 1-93) were available for analysis. After six months of treatment, 47 children (77.0%) improved by ≥4 points in CHOP INTEND score. Mean change in CHOP INTEND score was 9.0±8.0 points. Nineteen patients (31.1%) improved by ≥2 points in HINE-2 motor milestones. Regression analysis revealed age at onset of treatment as major determinant of change in CHOP INTEND from baseline.CONCLUSION: When analyzing a broad spectrum of SMA type 1 patients, many children showed an improvement of motor function after six months of treatment with nusinersen, which is generally not expected within the natural course of the disease. Long-term observation and follow-up of patients with later onset types of SMA are crucial to understand the clinical impact of treatment with nusinersen.",
keywords = "Child, Child Development, Child, Preschool, Compassionate Use Trials, Female, Germany, Humans, Infant, Injections, Spinal, Longitudinal Studies, Male, Motor Skills, Oligonucleotides/therapeutic use, Oligonucleotides, Antisense/therapeutic use, Prospective Studies, Spinal Muscular Atrophies of Childhood/drug therapy, Treatment Outcome",
author = "Astrid Pechmann and Thorsten Langer and David Schorling and Sabine Stein and Sibylle Vogt and Ulrike Schara and Heike K{\"o}lbel and Oliver Schwartz and Andreas Hahn and Kerstin Giese and Jessika Johannsen and Jonas Denecke and Claudia Wei{\ss} and Manuela Theophil and Janbernd Kirschner",
year = "2018",
doi = "10.3233/JND-180315",
language = "English",
volume = "5",
pages = "135--143",
journal = "J NEUROMUSCULAR DIS",
issn = "2214-3599",
publisher = "IOS Press",
number = "2",

}

RIS

TY - JOUR

T1 - Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

AU - Pechmann, Astrid

AU - Langer, Thorsten

AU - Schorling, David

AU - Stein, Sabine

AU - Vogt, Sibylle

AU - Schara, Ulrike

AU - Kölbel, Heike

AU - Schwartz, Oliver

AU - Hahn, Andreas

AU - Giese, Kerstin

AU - Johannsen, Jessika

AU - Denecke, Jonas

AU - Weiß, Claudia

AU - Theophil, Manuela

AU - Kirschner, Janbernd

PY - 2018

Y1 - 2018

N2 - BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA.OBJECTIVE: Prior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen.METHODS: We conducted a prospective, longitudinal data collection of patients treated with nusinersen within the EAP in seven neuromuscular centers in Germany. Standardized assessments including CHOP-INTEND and HINE-2 motor milestones were performed at baseline and 60 and 180 days after start of treatment.RESULTS: Data from 61 SMA type 1 patients (mean age 21.08 months, range 1-93) were available for analysis. After six months of treatment, 47 children (77.0%) improved by ≥4 points in CHOP INTEND score. Mean change in CHOP INTEND score was 9.0±8.0 points. Nineteen patients (31.1%) improved by ≥2 points in HINE-2 motor milestones. Regression analysis revealed age at onset of treatment as major determinant of change in CHOP INTEND from baseline.CONCLUSION: When analyzing a broad spectrum of SMA type 1 patients, many children showed an improvement of motor function after six months of treatment with nusinersen, which is generally not expected within the natural course of the disease. Long-term observation and follow-up of patients with later onset types of SMA are crucial to understand the clinical impact of treatment with nusinersen.

AB - BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA.OBJECTIVE: Prior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen.METHODS: We conducted a prospective, longitudinal data collection of patients treated with nusinersen within the EAP in seven neuromuscular centers in Germany. Standardized assessments including CHOP-INTEND and HINE-2 motor milestones were performed at baseline and 60 and 180 days after start of treatment.RESULTS: Data from 61 SMA type 1 patients (mean age 21.08 months, range 1-93) were available for analysis. After six months of treatment, 47 children (77.0%) improved by ≥4 points in CHOP INTEND score. Mean change in CHOP INTEND score was 9.0±8.0 points. Nineteen patients (31.1%) improved by ≥2 points in HINE-2 motor milestones. Regression analysis revealed age at onset of treatment as major determinant of change in CHOP INTEND from baseline.CONCLUSION: When analyzing a broad spectrum of SMA type 1 patients, many children showed an improvement of motor function after six months of treatment with nusinersen, which is generally not expected within the natural course of the disease. Long-term observation and follow-up of patients with later onset types of SMA are crucial to understand the clinical impact of treatment with nusinersen.

KW - Child

KW - Child Development

KW - Child, Preschool

KW - Compassionate Use Trials

KW - Female

KW - Germany

KW - Humans

KW - Infant

KW - Injections, Spinal

KW - Longitudinal Studies

KW - Male

KW - Motor Skills

KW - Oligonucleotides/therapeutic use

KW - Oligonucleotides, Antisense/therapeutic use

KW - Prospective Studies

KW - Spinal Muscular Atrophies of Childhood/drug therapy

KW - Treatment Outcome

U2 - 10.3233/JND-180315

DO - 10.3233/JND-180315

M3 - SCORING: Journal article

C2 - 29689734

VL - 5

SP - 135

EP - 143

JO - J NEUROMUSCULAR DIS

JF - J NEUROMUSCULAR DIS

SN - 2214-3599

IS - 2

ER -