Carole Vuillerot
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View article: Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1 Open
Importance Therapeutic advances have transformed the prognosis of spinal muscular atrophy (SMA). Given the lifelong implications of these innovative therapies, comparative data on their efficacy are urgently required. Objective To compare …
View article: Evolution of women satisfaction with labor pain management: a real-time study across nine maternity units
Evolution of women satisfaction with labor pain management: a real-time study across nine maternity units Open
Background A lack of consideration of labor pain by caregivers was a factor in women' dissatisfaction with their childbirth experience. The aim of this study was to measure changes in women' satisfaction with caregivers' consideration of t…
View article: The Lived Experience of Pediatric Gene Therapy Clinical Trial in Duchenne Muscular Dystrophy: Exploring Perceptions of Parents and Professionals Using Social Representation Method
The Lived Experience of Pediatric Gene Therapy Clinical Trial in Duchenne Muscular Dystrophy: Exploring Perceptions of Parents and Professionals Using Social Representation Method Open
In recent decades, medical and scientific advances have led to the development of new therapeutic approaches for Duchenne muscular dystrophy (DMD), including gene therapy (GT), which is currently being evaluated. Recruiting enough children…
View article: Is PARTNER, a hybrid HABIT-ILE programme with parent coaching, as effective as standard HABIT-ILE in children with cerebral palsy aged 3–5? A protocol for a multicentre, randomised controlled trial
Is PARTNER, a hybrid HABIT-ILE programme with parent coaching, as effective as standard HABIT-ILE in children with cerebral palsy aged 3–5? A protocol for a multicentre, randomised controlled trial Open
Introduction Hand-arm Bimanual Intensive Therapy Including Lower Extremities (HABIT-ILE) is an intensive rehabilitation programme for children with cerebral palsy (CP) delivered in a day camp setting recognised to promote the acquisition o…
View article: Use of assistive technology to assess distal motor function in subjects with neuromuscular disease
Use of assistive technology to assess distal motor function in subjects with neuromuscular disease Open
Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based support …
View article: Spinal muscular atrophy is also a disorder of spermatogenesis
Spinal muscular atrophy is also a disorder of spermatogenesis Open
Background Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such tr…
View article: Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint Open
Stride velocity 95th centile (SV95C) is a wearable-derived endpoint representing the 5% fastest strides taken during everyday living. In July 2023, SV95C received European Medicines Agency (EMA) qualification for use as a primary endpoint …
View article: Spinal muscular atrophy is also a disorder of spermatogenesis
Spinal muscular atrophy is also a disorder of spermatogenesis Open
Background Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such tr…
View article: Visuospatial Perception in Prematurely Born Children Without Cerebral Palsy or Retinopathy but With Scholar Complaints
Visuospatial Perception in Prematurely Born Children Without Cerebral Palsy or Retinopathy but With Scholar Complaints Open
In the absence of any complaints in early childhood, preterm children remain more at risk of encountering academic difficulties, but their clinical picture remains not well characterized. We screened visuospatial perception in 70 children …
View article: Use of assistive technology to assess distal motor function in subjects with neuromuscular disease
Use of assistive technology to assess distal motor function in subjects with neuromuscular disease Open
Purpose Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based …
View article: Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments Open
View article: The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy Open
NCT02145234, NCT02515669, NCT03039686.
View article: Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv)
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv) Open
View article: Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study Open
View article: C.2 SUNFISH parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)
C.2 SUNFISH parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA) Open
Background: SMA affects individuals with a broad age range and spectrum of disease severity. Risdiplam (EVRYSDI®) is a centrally and peripherally distributed, oral SMN2 pre-mRNA splicing modifier. Methods: SUNFISH is a multicenter, two-par…
View article: Psychometric Characteristics of the Motor Function Measure in Neuromuscular Diseases: A Systematic Review1
Psychometric Characteristics of the Motor Function Measure in Neuromuscular Diseases: A Systematic Review1 Open
Background: Recent pharmaceutical breakthroughs in neuromuscular diseases may considerably change the prognosis and natural history these diseases. The ability to measure clinically relevant outcomes such as motor function is critical for …
View article: Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA) Open
The original version of this article unfortunately contained a mistake. The corrected details are given below for your reading. In figure 1, there is an error in the n numbers below the graph in Panel 1b for the placebo group. The n number…
View article: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study Open
View article: Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) Open
View article: Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen Open
View article: Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect
Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect Open
Purpose: Assess the ability of the Kinect to capture movement and posture of people with spinal muscular atrophy (SMA) during completion of 14 items of the Motor Function Measure, a validated functional rating scale for people with neuromu…
View article: Confirmatory Validation of the French Version of the Duchenne Muscular Dystrophy Module of the Pediatric Quality of Life Inventory (PedsQL TM 3.0DMDvf)
Confirmatory Validation of the French Version of the Duchenne Muscular Dystrophy Module of the Pediatric Quality of Life Inventory (PedsQL TM 3.0DMDvf) Open
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to both improve survival and optimize quality of life. Evaluating quality of life is neverthel…
View article: Effect of nusinersen after three years of treatment in 61 young children with SMA type 1 or 2: a French real-life observational study
Effect of nusinersen after three years of treatment in 61 young children with SMA type 1 or 2: a French real-life observational study Open
Background Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene ( SMN1 ) causing degeneration of the anterior horn cells of the spinal cord and re…
View article: Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study Open
View article: Confirmatory Validation of the French Version of the Duchenne Muscular Dystrophy Module of the Pediatric Quality of Life Inventory (PedsQL TM3.0DMDvf)
Confirmatory Validation of the French Version of the Duchenne Muscular Dystrophy Module of the Pediatric Quality of Life Inventory (PedsQL TM3.0DMDvf) Open
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to both improve survival and optimize quality of life. Evaluating quality of life is neverthel…
View article: Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment Open
Background and purpose Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene. Risdiplam is an orally administered molecule that modifies SMN2 …
View article: Table of Contents
Table of Contents Open
View article: Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen
Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen Open
Introduction The recent development of disease‐modifying treatments in spinal muscular atrophy (SMA) type 1 shifted these patients' management from palliative to proactive. The aim of this study was to assess patients' nocturnal gas exchan…
View article: A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data
A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data Open
The 32-item Motor Function Measure (MFM32) is an assessment of motor function used to evaluate fine and gross motor ability in patients with neuromuscular disorders, including spinal muscular atrophy (SMA). Reliability and validity of the …
View article: Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy
Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy Open
The Motor Function Measure is a standardized scoring system to evaluate motor function and monitor disease progression in neuromuscular diseases such as Duchenne muscular dystrophy. There are no available reference percentile curves for th…