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The primary objective of the study is to examine the clinical efficacy of nusinersen administered intrathecally at higher doses to participants with spinal muscular atrophy (SMA).
The secondary objectives of the study are to examine the safety and tolerability of nusinersen administered intrathecally at higher doses to participants with SMA; to examine the effect of nusinersen administered at higher doses compared to the currently approved dose in participants with SMA; and to examine the pharmacokinetic(s) (PK) of nusinersen [cerebrospinal fluid (CSF) and plasma] after intrathecal administration of nusinersen given at higher doses to participants with SMA.
Muscular Atrophy, Spinal
Not yet recruiting
Published on BioPortfolio: 2019-09-15T03:11:07-0400
Observational study of adult patients with spinal muscular atrophy types 2 and 3 receiving nusinersen
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...
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...
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)
Blood is a specialized bodily fluid that delivers necessary substances to the body's cells (in animals) – such as nutrients and oxygen – and transports waste products away from those same cells. In vertebrates, it is composed of blo...