About 3,875 results

ALLMedicine™ Spinal Muscular Atrophy Center

Research & Reviews  1,369 results

Nusinersen: A Review in 5q Spinal Muscular Atrophy.
CNS Drugs; Hoy SM

Dec 2nd, 2021 - 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 pro...

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A nove...
American Journal of Medical Genetics. Part A; Chin HL, Huynh S et. al.

Nov 27th, 2021 - Monoallelic pathogenic variants in BICD2 are associated with autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B (SMALED2A, SMALED2B). As part of the cellular vesicular transport, complex BICD2 facilitates the flow of ...

Real-world safety of nusinersen in Japan: results from an interim analysis of a post-ma...
The International Journal of Neuroscience; Wataya T, Takasaki S et. al.

Nov 24th, 2021 - Nusinersen is the first disease-modifying therapy to treat spinal muscular atrophy (SMA). This report describes the safety and effectiveness of nusinersen in Japanese clinical use using two data sources: an ongoing Japanese post-marketing surveill...

Premature delivery in the domestic sow in response to in utero delivery of AAV9 to feta...
Gene Therapy; Rich KA, Wier CG et. al.

Nov 23rd, 2021 - Numerous pediatric neurogenetic diseases may be optimally treated by in utero gene therapy (IUGT); but advancing such treatments requires animal models that recapitulate developmental physiology relevant to humans. One disease that could benefit f...

Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical...
Molecular Therapy : the Journal of the American Society O... Bersani M, Rizzuti M et. al.

Nov 23rd, 2021 - Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality. Recently approved SMA therapies have transformed a deadly disease into a survivable one, but these compounds show a wide spectrum of clinica...

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Guidelines  1 results

ACOG committee opinion No. 432: spinal muscular atrophy.
Obstetrics and Gynecology;

Apr 23rd, 2009 - ACOG committee opinion No. 432: spinal muscular atrophy.|2009||diagnosis,genetics,genetics,

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Drugs  4 results see all →

Clinicaltrials.gov  53 results

A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy

Nov 18th, 2021 - The primary objective of the study is to examine the efficacy of multiple doses of Nusinersen administered intrathecally in preventing or delaying the need for respiratory intervention or death in infants with genetically diagnosed and presymptoma...

A Study to Assess the Clinical Validity of Konectom™ in Adults Living With Neuromuscular Disorders

Nov 5th, 2021 - The primary objective of the study is to explore the convergent validity of smartphone-based Konectom DOAs against in-clinic standard assessments. The secondary objectives of this study are to evaluate the test-retest reliability of smartphone-bas...

Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)

Nov 4th, 2021 - This is a prospective pilot study to determine MUNE and CMAP values in a population of adults with SMA, assess how these electrophysiologic parameters change over time, and explore how well these parameters correlates with other outcome measures i...

A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy

Oct 26th, 2021 - This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA) previously enrolled in S...

Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy

Oct 26th, 2021 - The primary objectives of this study are to examine the clinical efficacy of nusinersen administered intrathecally at higher doses to participants with spinal muscular atrophy (SMA), as measured by change in Children's Hospital of Philadelphia Inf...

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News  119 results

Infants With Symptomatic SMA Reach Milestones With Gene Therapy

Oct 6th, 2021 - Gene replacement therapy with onasemnogene abeparvovec (Zolgensma) enabled symptomatic infants with spinal muscular atrophy type 1 (SMA1) to achieve at least one episode of independent sitting, the open-label phase III STR1VE-EU trial showed. Four...

Regular Blood Work After Gene Therapy Warranted by Rare Condition

Sep 3rd, 2021 - Recipients of certain adeno-associated virus (AAV) vector-based gene therapies should be monitored closely for signs of thrombotic microangiopathy (TMA), FDA advisors agreed. "Frequent laboratory assessments are necessary," said Barry Byrne, MD, P...

Baby With Spinal Muscular Atrophy Treated With Zolgensma Gene Therapy

Jun 1st, 2021 - A 5-month old baby has become the first patient in England to receive a potentially life-saving drug on the NHS that could prevent paralysis and prolong the lives of children with spinal muscular atrophy (SMA). Baby Arthur with father, Reece/NHS E...

Sustained Long-Term Benefit of Gene Therapy for SMA

May 20th, 2021 - For children with spinal muscular atrophy (SMA), gene therapy with onasemnogene abeparvovec (Zolgensma, Novartis) provides long-lasting benefits with a favorable safety profile, new long-term follow-up data show. At a median of 5.2 years since rec...

Spinal Muscular Atrophy Drug Approved in Europe

Mar 30th, 2021 - The European Commission (EC) has granted marketing clearance for risdiplam (Evrysdi, PTC Therapeutics), the first oral treatment for patients with certain types of spinal muscular atrophy (SMA). Risdiplam is indicated for the treatment of 5q SMA i...

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Patient Education  4 results see all →