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It is well known that patients with spinal muscular atrophy (SMA) have progressive decline of respiratory muscle function. Therapy traditionally involved supportive means to ensure optimal nutrition and airway clearance. Nusinersen (spinraza) is a disease-modifying medication approved for treatment of SMA in pediatric and adult patients. The goal of this study is to observe pulmonary function test (PFT) changes and respiratory muscle strength trends throughout the first year of treatment. A prospective, longitudinal study measuring pulmonary function testing (PFTs) changes in spinal muscular atrophy (SMA) patients. Patients will be patients with SMA who are approved and maintained on nusinersen. Patient will have a baseline PFT. Investigators will repeat PFT at 3, 6, and 12 months while on nusinersen treatment.
Spinal Muscular Atrophy
NYU Langone Health
NYU Langone Health
Published on BioPortfolio: 2019-08-14T18:29:37-0400
Observational study of adult patients with spinal muscular atrophy types 2 and 3 receiving nusinersen
To provide access to nusinersen to eligible patients with Infantile-onset Spinal Muscular Atrophy (SMA) (consistent with Type 1) to address a high-unmet medical need.
This is a longitudinal, observational study of adult patients with genetically confirmed chromosome 5q SMA to examine the safety, tolerability, and effectiveness of SPINRAZA® (nusinersen)...
The primary objective of this study is to demonstrate a pharmacodynamic effect of CK-2127107 on measures of skeletal muscle function or fatigability in patients with Spinal Muscular Atroph...
IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory functio...
The aim of the study was to report 12-month changes after treatment with Nusinersen in a cohort of 85 type I Spinal Muscular Atrophy patients of age ranging from 2 months to 15 years and 11 months.
Infants with spinal muscular atrophy (SMA) type 1 typically face a decline in motor function and a severely shortened life expectancy. Clinical trials for SMA type 1 therapies, onasemnogene abeparvove...
Ambulatory individuals with spinal muscular atrophy (SMA) experience muscle weakness, gait impairments and fatigue that affect their walking ability. Improvements have been observed in motor function ...
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)
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