Literature DB >> 28556387

Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2: Experience from a nusinersen clinical study.

Kathie M Bishop1, Jacqueline Montes2, Richard S Finkel3.   

Abstract

INTRODUCTION: In this study we examined the feasibility of assessing motor milestone performance of infants with spinal muscular atrophy (SMA) using the Hammersmith Infant Neurological Exam-Part 2 (HINE-2) in a phase 2 study of nusinersen.
METHODS: Nineteen SMA infants were assessed using the HINE-2 at baseline (≤7 months of age), and periodically up to 39 months of age. We evaluated whether the HINE-2 was feasible, reliable, and sensitive to change.
RESULTS: Motor milestone assessments in SMA infants were feasible using the HINE-2. Baseline test-retest reliability was excellent (R = 0.987; P < 0.0001). SMA infants were extremely low functioning at baseline and the HINE-2 was able to detect changes over time in 16 of 19 infants within all 8 domains. HINE-2 improvements were correlated with changes in other neuromuscular outcome measures.
CONCLUSION: Results support the use of the HINE-2 motor milestone assessment in clinical trials of SMA infants. Muscle Nerve 57: 143-146, 2017.
© 2017 Wiley Periodicals, Inc.

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Year:  2017        PMID: 28556387     DOI: 10.1002/mus.25705

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  12 in total

1.  Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.

Authors:  Bo Hoon Lee; Stella Deng; Claudia A Chiriboga; Denise M Kay; Obehioya Irumudomon; Emma Laureta; Leslie Delfiner; Simona O Treidler; Yaacov Anziska; Ai Sakonju; Chelsea Kois; Osman Farooq; Kristin Engelstad; Alexandra Laurenzano; Katherine Hogan; Michele Caggana; Carlos A Saavedra-Matiz; Colleen F Stevens; Emma Ciafaloni
Journal:  Neurology       Date:  2022-07-14       Impact factor: 11.800

Review 2.  Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence.

Authors:  Helgi Thor Hjartarson; Kristofer Nathorst-Böös; Thomas Sejersen
Journal:  Drug Des Devel Ther       Date:  2022-06-16       Impact factor: 4.319

Review 3.  Treatment Advances in Spinal Muscular Atrophy.

Authors:  Diana Bharucha-Goebel; Petra Kaufmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-10-06       Impact factor: 5.081

4.  Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study.

Authors:  Kristin J Krosschell; Michael Bosch; Leslie Nelson; Tina Duong; Linda P Lowes; Lindsay N Alfano; Danielle Benjamin; Terri B Carry; Ginger Devine; Carolyn Kelley; Rebecca Gadekan; Elizabeth C Malkus; Amy Pasternak; Stephanie Provance-Orr; Lynne Roemeiser-Logan; Alina Nicorici; Donata Trussell; Sally Dunaway Young; Jennifer R Fetterman; Jacqueline Montes; Penny J Powers; Rebecca Quinones; Janet Quigley; Christopher S Coffey; Jon W Yankey; Amy Bartlett; John T Kissel; Stephen J Kolb
Journal:  J Neuromuscul Dis       Date:  2018

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

Authors:  Astrid Pechmann; Thorsten Langer; David Schorling; Sabine Stein; Sibylle Vogt; Ulrike Schara; Heike Kölbel; Oliver Schwartz; Andreas Hahn; Kerstin Giese; Jessika Johannsen; Jonas Denecke; Claudia Weiß; Manuela Theophil; Janbernd Kirschner
Journal:  J Neuromuscul Dis       Date:  2018

6.  Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology.

Authors:  Yiran Wang; Chongchong Xu; Lin Ma; Yongchao Mou; Bowen Zhang; Shanshan Zhou; Yue Tian; Jessica Trinh; Xiaoqing Zhang; Xue-Jun Li
Journal:  Life Sci Alliance       Date:  2019-03-25

7.  One Year of Newborn Screening for SMA - Results of a German Pilot Project.

Authors:  Katharina Vill; Heike Kölbel; Oliver Schwartz; Astrid Blaschek; Bernhard Olgemöller; Erik Harms; Siegfried Burggraf; Wulf Röschinger; Jürgen Durner; Dieter Gläser; Uta Nennstiel; Brunhilde Wirth; Ulrike Schara; Beate Jensen; Marc Becker; Katharina Hohenfellner; Wolfgang Müller-Felber
Journal:  J Neuromuscul Dis       Date:  2019

8.  Do we always need to treat patients with spinal muscular atrophy? A personal view and experience.

Authors:  Caterina Agosto; Eleonora Salamon; Antuan Divisic; Francesca Benedetti; Luca Giacomelli; Aashni Shah; Giorgio Perilongo; Franca Benini
Journal:  Orphanet J Rare Dis       Date:  2021-02-11       Impact factor: 4.123

Review 9.  In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.

Authors:  Kristine S Ojala; Emily J Reedich; Christine J DiDonato; Stephen D Meriney
Journal:  Brain Sci       Date:  2021-02-05

10.  Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Authors:  Frédérique Audic; Marta Gomez Garcia de la Banda; Delphine Bernoux; Paola Ramirez-Garcia; Julien Durigneux; Christine Barnerias; Arnaud Isapof; Jean-Marie Cuisset; Claude Cances; Christian Richelme; Carole Vuillerot; Vincent Laugel; Juliette Ropars; Cécilia Altuzarra; Caroline Espil-Taris; Ulrike Walther-Louvier; Pascal Sabouraud; Mondher Chouchane; Catherine Vanhulle; Valérie Trommsdorff; Anne Pervillé; Hervé Testard; Emmanuelle Lagrue; Catherine Sarret; Anne-Laude Avice; Pierre Beze-Beyrie; Vanessa Pauly; Susana Quijano-Roy; Brigitte Chabrol; Isabelle Desguerre
Journal:  Orphanet J Rare Dis       Date:  2020-06-12       Impact factor: 4.123

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