Department of Neurology and Pediatrics, Center for Gene Therapy, Abigail Wexner Research Institute, The Ohio State University, Nationwide Children's Hospital, Columbus, OH, United States.
Publications dans "Amyotrophies spinales infantiles" :
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Publications dans "Amyotrophies spinales infantiles" :
Department of Clinical and Molecular Genetics and Rare Diseases Unit Hospital Vall d'Hebron and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER) Barcelona Spain.
Publications dans "Amyotrophies spinales infantiles" :
From the Child Development and Exercise Center (B.B., L.E.H.) and Department of Pediatric Gastroenterology (E.E.S.N.), Wilhelmina Children's Hospital, and UMC Utrecht Brain Center (R.I.W., F.-L.A., R.P.A.v.E., H.S.G., W.L.v.d.P.), University Medical Center Utrecht; Knowledge Institute for Medical Specialists (J.F.d.G.), University of Applied Sciences; and Biostatistics & Research Support (R.P.A.v.E.), Julius Center for Health Sciences and Primary Care, Utrecht, the Netherlands.
Publications dans "Amyotrophies spinales infantiles" :
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Publications dans "Amyotrophies spinales infantiles" :
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Publications dans "Amyotrophies spinales infantiles" :
Departments of Neurology (TD, CW, SDY, KAH, JS, JWD), Rehabilitation (CEM), and Radiology (MZ, MW), Stanford University School of Medicine, Palo Alto, CA; Departments of Biostatistics and Computational Biology (MPM), and Neurology (MPM and WBM), University of Rochester Medical Center, NY; Department of Neurology (AP,BTD), Boston Children's Hospital, MA; Department of Neurology (DCD), Columbia University, New York; Department of Neurology (AMG EAK, ZZ) Children's Hospital of Philadelphia, PA; and Department of Pediatrics (RSF) Nemours Children's Hospital, Orlando, FL.
Publications dans "Amyotrophies spinales infantiles" :
Departments of Neurology (TD, CW, SDY, KAH, JS, JWD), Rehabilitation (CEM), and Radiology (MZ, MW), Stanford University School of Medicine, Palo Alto, CA; Departments of Biostatistics and Computational Biology (MPM), and Neurology (MPM and WBM), University of Rochester Medical Center, NY; Department of Neurology (AP,BTD), Boston Children's Hospital, MA; Department of Neurology (DCD), Columbia University, New York; Department of Neurology (AMG EAK, ZZ) Children's Hospital of Philadelphia, PA; and Department of Pediatrics (RSF) Nemours Children's Hospital, Orlando, FL.
Publications dans "Amyotrophies spinales infantiles" :
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Publications dans "Amyotrophies spinales infantiles" :
Neuroinflammation is an emerging clinical feature in spinal muscular atrophy (SMA). Characterizing neuroinflammatory cytokines in cerebrospinal fluid (CSF) in SMA and their response to nusinersen is i...
Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but ...
This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnogr...
Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks...
Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these fi...
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder associated with continuous motor function loss and complications, such as scoliosis and contractures. Understanding the natural hi...
Electronic databases were searched from inception to June 27, 2022 (Embase, MEDLINE, and Evidence-Based Medicine Reviews). Observational studies, case-control studies, cross-sectional studies, and cas...
Ninety-three publications were included, of which 68 reported on motor function. Of these, 10 reported KM curves (3 on the probability of sitting in patients with types 2 and 3 SMA and 8 on the probab...
The results demonstrate that a high degree of motor function loss is inevitable, affecting patients of all ages. In addition, data suggest that untreated patients with types 2 and 3 SMA remain at risk...
To elucidate the clinical characteristics and standard of care (SoC) of spinal muscular atrophy (SMA) patients in Thailand, focusing on primary endpoints: age at death and a composite of death or trac...
Retrospective observational study....
Seven tertiary centres across Thailand....
Records of 110 patients with genetically confirmed SMA, spanning 2012-2021....
Historical data review; no active interventions....
Age at death and a composite measure of death or tracheostomy necessity....
The cohort included 1 SMA0, 50 SMA1, 40 SMA2 and 19 SMA3 cases. Median ages at the onset and diagnosis of SMA1 were 3 and 6.2 months. Of SMA1 patients, 63% required ventilators, and eight received dim...
Significant delays in diagnosis and SoC access, including DMTs, were observed, underscoring urgent needs for improved diagnostic and care strategies to enhance SMA patient outcomes in Thailand....
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by skeletal muscle weakness and atrophy. Patients with SMA types 1 and 2 develop severe disabilities conferring substant...
Onasemnogene abeparvovec has been approved for the treatment of spinal muscular atrophy 5q type 1 in several countries, which calls for an independent assessment of the evidence regarding efficacy and...
Conduct a meta-analysis to assess the efficacy and safety of onasemnogene abeparvovec in patients diagnosed with SMA type 1, based on the available evidence....
This article results from searches conducted on databases up to November 2022. Outcomes of interest were global survival and event-free survival, improvement in motor function and treatment-related ad...
Four reports of three open-label, non-comparative clinical trials covering 67 patients were included. Meta-analyses of data available in a 12-month follow-up estimate a global survival of 97.56% (95%C...
The results indicate a potential change in the natural history of type 1 SMA, but the methodological limitations of the studies make the real extent of the technology's long-term benefits uncertain....
As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime. However, for SMA patients with severe spinal...
SMA patients receiving posterior spinal fusion and interlaminar fenestration in Peking Union Medical College Hospital from January 2020 to October 2021 were retrospectively analyzed. 13 patients were ...
In SMA with severe scoliosis planning to receive posterior spinal fusion, unilateral lumbar interlaminar fenestration on the convex side provides a feasible and reliable access for intrathecal nusiner...
Recently, there have been significant advances in the treatment of spinal muscular atrophy (SMA). Although clinical improvement in patients with SMA after the treatment has been reported, changes in e...
Patient 1: A 2.5-year-old girl was diagnosed with SMA type I at 1 month of age. She received nusinersen four times and onasemnogene abeparvovec (OA) was administered at 6 months of age. The compound m...
This is the first report on the changes in needle EMG findings after treatment in patients with SMA type I. These findings suggested that peripheral nerve reinnervation occurred after the treatment, a...
Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short...
Spinal muscular atrophy type 1 (SMA1) is the most severe and early form of SMA, a genetic disease with motor neuron degeneration. Onasemnogene abeparvovec gene transfer therapy (GT) has changed the na...
A French national expert committee identified 95 newly diagnosed treatment-naive SMA1 patients between June 2019 and June 2022. We prospectively report on children treated with GT as the first and onl...
Forty-six SMA1 patients received GT. Twelve patients received other treatments. Patients with respiratory insufficiency were oriented toward palliative care after discussion with families. Twenty-nine...
Our study shows favorable motor outcomes and preserved respiratory and feeding functions in treatment-naive SMA1 infants treated by GT as the first and only therapy before respiratory and bulbar dysfu...
