Trusted Resources: Education
Scientific literature and patient education texts
Nusinersen: A Review in 5q Spinal Muscular Atrophy
source: CNS drugs
year: 2021
authors: Hoy SM
summary/abstract:Survival motor neuron 1 (SMN1), located on chromosome 5q, encodes the survival motor neuron (SMN) protein. A deletion or mutation in SMN1 results in a rare neuromuscular disorder: 5q spinal muscular atrophy (SMA). In such patients, SMN protein production relies solely on SMN2. Nusinersen (Spinraza) is a modified antisense oligonucleotide approved for the treatment of 5q SMA. Administered intrathecally, it modifies SMN2 pre-messenger RNA splicing, thereby increasing full-length SMN protein levels. Interim analyses from an ongoing phase II study suggest substantial clinical benefits with nusinersen initiation in presymptomatic patients. In phase III studies, nusinersen achieved significant and/or clinically relevant improvements in motor function in symptomatic patients with infantile- and later-onset 5q SMA, and significantly improved event-free survival and overall survival in patients with infantile-onset 5q SMA. Longer term (up to a median of ≈ 6 years of available data), motor function was maintained or improved in symptomatic patients. Nusinersen had a favourable safety profile in clinical studies in presymptomatic and symptomatic patients. Real-world experience supports the effectiveness, safety and tolerability of nusinersen in symptomatic patients of all ages. Thus, nusinersen remains an important treatment option among a broad range of 5q SMA patients.
organization: Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand. demail@springer.com.DOI: 10.1007/s40263-021-00878-x
read more
Related Content
-
Axonal Excitability Changes in Children With Spinal Muscular Atrophy Treated With NusinersenSpinal muscular atrophy (SMA) is associa...
-
Spinal Muscular Atrophy: Types and GeneticsSpinal Muscular Atrophy (SMA)SMA is a ra...
-
Biogen to Launch Study of Higher Spinraza Dose in Patients With Later Onset SMABiogen announced it intends to initiate ...
-
Assessment of Cerebral Spinal Fluid Biomarkers and microRNA-Mediated Disease Mechanisms in Spinal Muscular Atrophy P...Cerebral spinal fluid (CSF) is a promisi...
-
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening AssaySpinal muscular atrophy (SMA) is an auto...
-
Quality of Life Assessment in Adult Spinal Muscular Atrophy Patients Treated With NusinersenObjective: To retrospectively evaluate q...
-
Your Guide to Spinal Muscular Atrophyhttps://simedhealth.com/sites/default/fi...