Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

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Abstract

Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).

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An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

Jessica M. O’Hagen, Allan Glanzman, Michael McDermott … (2007)

To develop and evaluate an expanded version of the Hammersmith Functional Motor Scale allowing for evaluation of ambulatory SMA patients.

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Revised upper limb module for spinal muscular atrophy: Development of a new module.

Elena S. Mazzone, Anna Mayhew, Jacqueline Montes … (2017)

There is a growing need for a robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the available scales lack sensitivity at the extremes of the clinical spectrum. We report the development of the Revised Upper Limb Module (RULM), an assessment specifically designed for upper limb function in SMA patients.

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Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Irene Faravelli, Monica Nizzardo, Giacomo P Comi … (2015)

In the past decade, improved understanding of spinal muscular atrophy (SMA) aetiopathogenesis has brought us to a historical turning point: we are at the verge of development of disease-modifying treatments for this hitherto incurable disease. The increasingly precise delineation of molecular targets within the survival of motor neuron (SMN) gene locus has led to the development of promising therapeutic strategies. These novel avenues in treatment for SMA include gene therapy, molecular therapy with antisense oligonucleotides, and small molecules that aim to increase expression of SMN protein. Stem cell studies of SMA have provided an in vitro model for SMA, and stem cell transplantation could be used as a complementary strategy with a potential to treat the symptomatic phases of the disease. Here, we provide an overview of established data and novel insights into SMA pathogenesis, including discussion of the crucial function of the SMN protein. Preclinical evidence and recent advances from ongoing clinical trials are thoroughly reviewed. The final remarks are dedicated to future clinical perspectives in this rapidly evolving field, with a broad discussion on the comparison between the outlined therapeutic approaches and the remaining open questions.

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Journal

Journal ID (iso-abbrev): N. Engl. J. Med.

Title: The New England journal of medicine

Publisher: Massachusetts Medical Society

ISSN (Electronic): 1533-4406

ISSN (Print): 0028-4793

Publication date (Electronic): February 15 2018

Volume: 378

Issue: 7

Affiliations

[1 ] From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).

Article

DOI: 10.1056/NEJMoa1710504

PubMed ID: 29443664

SO-VID: 07fff8de-8495-41d2-88e3-4bff8e422f9b

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Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

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Most cited references 15

An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

Revised upper limb module for spinal muscular atrophy: Development of a new module.

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

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