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.
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.
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.
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.
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
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.
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.
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.
Investigating and following the motor function in children with SMA is challenging. In this issue of Neuromuscular Disorders, Perumal et al. (2023) describes how the smartphone sensor can be used to a...
Spinal muscular atrophy (SMA) is a pediatric-onset neuromuscular disorder caused by insufficient survival motor neuron (SMN) protein. SMN restorative therapies are now approved for the treatment of SM...
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease that leads to multiple organ dysfunction. The advent of disease-modifying treatments makes the early diagnosis of SMA criti...
Interviews with the caregivers of 10 patients with SMA were conducted by neurologists specializing in SMA. A questionnaire for evaluating the level of health information literacy was further developed...
The average time from the first symptom to first medical consultation was 4.8 months, and that from the first symptom to diagnosis was 10.8 months. There is a significant delay from the onset of the i...
Patients with SMA and their caregivers had low levels of health information literacy. SMA information visibility and standardization need to be improved. Medical personnel with experience in the diagn...
We sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios. The proposed classification is primarily based on ...
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...
The availability of disease-modifying therapies and newborn screening programs for spinal muscular atrophy (SMA) has generated an urgent need for reliable prognostic biomarkers to classify patients ac...
In this multicenter retrospective longitudinal study, we employed an untargeted liquid chromatography mass spectrometry (LC-MS)-based proteomic approach on CSF samples collected from 61 SMA patients t...
The RF algorithm, applied to the protein expression profile of naïve patients, revealed several proteins that could classify the different types of SMA according to their differential abundance at T0....
This untargeted LC-MS proteomic profiling in the CSF of SMA patients revealed differences in protein expression in naïve patients and showed nusinersen-related modulation in several biological process...
Spinal muscular atrophy (SMA) is a rare monogenic neuromuscular disorder caused by loss of function mutations. Measuring health-related quality of life to support economic evaluations in this populati...
The data used in this study were obtained via a web-based, cross-sectional survey. All participants completed the self-reporting EQ-5D-5L and PROMIS-29 questionnaires. Information about their socioeco...
Strong ceiling and floor effects were observed for four dimensions of the EQ-5D-5L and three subscales, including pain intensity, pain interference, and physical function, of the PROMIS-29. All hypoth...
The EQ-5D-5L and PROPr both appear to be valid PBMs for individuals with SMA. However, PROPr yielded considerably lower utility scores than EQ-5D-5L and their agreement was poor. Therefore, these two ...
Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn scr...
Recently approved treatments for spinal muscular atrophy (SMA) may shift clinical care priorities to secondary complications associated with SMA-related aging. To date, there is little knowledge about...
This was a retrospective cohort study that accessed Medicare fee-for-service and commercial claims data from 01/01/2008-12/22/2016. Data from adults ≥ 18 years old with SMA and without SMA matched (1:...
There were 2,427 adults with SMA (mean [SD] age, 59.7 [17.4] years; 49.0% female) and 484,528 matched adults without SMA. Adults with vs. without SMA had a higher prevalence and adjusted OR of all 30 ...
The limitations of this study are that evidence of morbidities were limited to diagnostic claims and information on SMA type and symptoms or onset were not available. In conclusion, adults with SMA ha...
Spinal muscular atrophy (SMA) is a rare degenerative disorder with loss of motor neurons caused by mutations in the SMN1 gene. Nusinersen, an antisense oligonucleotide, was approved for SMA treatment ...
