Carole Vuillerot

Hospices Civils de Lyon (Centre Hospitalier Universitaire de Lyon) | CHU Lyon · Escale Paediatric PMR department

To assess changes in motor function in patients with Duchenne muscular dystrophy using the Motor Function Measure (MFM). Three studies were performed. Two studies included only physiotherapy-treated patients, with 13 patients (males mean age 11y 7mo, SD 1y 10mo, range 8-14y) in the 3-month study and 41 patients (males mean age 14y 1mo, SD 5y 5mo, r...

Surgical correction for the challenging combined deformities in hip dysplasia associated with cerebral palsy remains controversial. The purpose of this study was to assess the efficacy and determine the role of slotted acetabular augmentation (SAA) for the treatment of neuromuscular hip dysplasia in comparison with other treatment options. We retro...

Little is known about quality of life of adolescents with neuromuscular diseases or the factors that influence it. We searched whether physical impairment, physical disability, and medical complications were predictors of low quality of life. Motor function, health, orthopedic status, and rehabilitation were assessed in 43 adolescents with neuromus...

To determine the frequency of recent skin injuries in children with neuromotor disabilities and its association with disability. Cross-sectional study of 168 children with neuromotor disabilities aged 2-16 years. Two outpatient child rehabilitation centres. Children were classified as unrestricted walkers, restricted walkers or wheelchair dependent...

Osteoporosis is a common complication in children with motor impairments. They have a higher risk of fractures (20% during their lifetime) mostly at femoral level. Furthermore, these children have pain yet no clear relation has been established between osteoporosis and pain. The efficacy of bisphosphonates has been validated in adults and for child...

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 optimise quality of life. Evaluating quality of life is nevertheless a major challenge. No DMD-specific quality of life scale to exists in French. We therefore produced a Frenc...

Importance: Clinical practice guidelines for infants at high risk of cerebral palsy (CP) emphasize the importance of very early and intensive intervention. Objective: To determine the feasibility of a new, home-based, early intensive bimanual stimulation program (BB–Bim) and its impact on hand function in infants at risk of unilateral CP. Design: S...

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-part, randomized, placebo-controlled, double-blind study in patients with Types 2/3 SMA. Part 1 assessed the safet...

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 the assessment of therapeutics and the follow up of individuals. The Motor Function Measure (MFM) is a quantit...

Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a Phase 3, randomized, double-blind, placebo-controlled study, investigated the efficacy and safety of risdiplam in type 2 and non‑ambulant type 3 SMA. The primary endpoint was...

Spinal muscular atrophy 1 (SMA1) is a severe early genetic disease with degeneration of motor neurons. Motor development is still suboptimal after gene replacement therapy in symptomatic patients. In this study, compound muscle action potential (CMAP) amplitudes were explored as predictors of motor recovery after gene therapy. Thirteen symptomatic...

Background ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH (NCT02913482) interventional study of risdiplam treatment in Type 1 SMA. Methods Data were extracted fr...

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 neuromuscular diseases. Methods: Multicenter feasibility study in which Motor Function Measure items were scored as...

Spinal muscular atrophy (SMA) affects individuals with a broad age range and spectrum of disease severity. Risdiplam (EVRYSDI®) is a centrally and peripherally distributed, oral survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier that has been approved in more than 70 countries worldwide. SUNFISH (NCT02908685) is a multicenter, two-part, r...

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 resulting in muscle atrophy. The aim of this paper is to report a 36-month follow-up of children with SMA treated w...

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 nevertheless a major challenge. No DMD-specific quality of life scale to exists in French. We therefore produced a Frenc...

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 nevertheless a major challenge. No DMD-specific quality of life scale to exists in French. We therefore produced a Frenc...

SUNFISH ( NCT02908685 ) is a multicentre, two-part, randomised (2:1, risdiplam:placebo), placebo-con- trolled, double-blind study in individuals with Type 2/3 spinal muscular atrophy (SMA; inclusion criteria 2–25 years at enrolment). SUNFISH investigates efficacy and safety of risdiplam, a centrally and periph- erally distributed oral survival of m...

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 exchanges before noninvasive ventilation (NIV) initiation and their clinical evolution to determine if capnia is a...

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 MFM32 have been documented in individuals with SMA. Through semi-structured qualitative interviews ( N = 40) an...

Background Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to inve...

Background The first lockdown during COVID-19 pandemic in France led to an abrupt change in children’s daily lives. For children with physical disabilities and their families, activities were limited, access to healthcare and therapy was disrupted, and family organisation was altered. The objective was to report the impact of the lockdown on daily...

Objectives: To assess the inter-rater reliability of the SOFMER Activity Score (SAS, version 2, an 8-item –4 motor and 4 cognitive– and 5-level scale) and improve its scoring system before conducting further validation steps. Design: Cross-sectional, prospective, observational, non-interventional, and multicentric study. Setting: The study was cond...

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 this measure. The aim of this analysis was to generate Motor Function Measure percentile curves for ambulant and...

The small sample sizes inherent in rare and pediatric disease settings offer significant challenges for clinical trial design. In such settings, Bayesian adaptive trial methods can often pay dividends, allowing the sensible incorporation of auxiliary data and other relevant information to bolster that collected by the trial itself. Previous work ha...

By definition, neuromuscular diseases are rare and fluctuating in terms of symptoms; patients are often lately diagnosed, do not have enough information to understand their condition and be proactive in their management. Usually, insufficient resources or services are available, leading to patients’ social burden. From a medical perspective, the ra...

Background The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrophy (SMA). This two-part study explored the relationship between the functional abilities assessed in the MFM32 and activities of d...

BACKGROUND Duchenne Muscular Dystrophy (DMD), the most common neuromuscular disease in children, is a severe, progressive disease that affects skeletal muscle. Abnormal gait patterns in children with DMD result from compensatory adaptations of their locomotor system to maintain free ambulation in response to the slow, progressive muscle weakness, c...

Objective To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as endpoints in clinical trials. Methods Patients with Type 2 and 3 SMA (N = 81) with varied functional abilit...

Aim To assess the prevalence of elementary visuospatial perception (EVSP) deficit in children with neurodevelopmental disorders. Method Using a screening test designed and validated to measure dorsal EVSP ability, 168 children (122 males, 46 females; mean age 10y [SD 1y 10mo], range 4y 8mo–16y 4mo) diagnosed with developmental coordination disorde...

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in chil...

In a previous Phase 2 study, olesoxime had a favorable safety profile. Although the primary endpoint was not met, analyses suggested that olesoxime might help in the maintenance of motor function in patients with Types 2/3 SMA. This open-label extension study (OLEOS) further characterizes the safety, tolerability and efficacy of olesoxime over long...

Objectives To investigate the responsiveness of the motor function measure (MFM) and determine the minimal clinically important difference (MCID) in individuals with 2 common types of congenital muscular dystrophy (CMD). Design Observational, prospective, single center, cohort study. Setting National Institute of Neurological Disorders and Stroke...

Background: The daily lives of children with physical disabilities and their families have been significantly affected by the COVID-19 pandemic. The children face health risks, especially mental, behavioral, social and physical risks. Objective: This study aimed to identify potential healthcare issues relating to the wellbeing of disabled children,...

Background: When tested in a controlled clinic environment, individuals with neuromuscular-related symptoms may complete motor tasks within normal predicted ranges. However, measuring activity at home may better reflect typical motor performance. The accuracy of accelerometry measurements in individuals with congenital muscular dystrophy (CMD) is...

Spinal muscular atrophy type 1 (SMA-1) is a severe neurodegenerative disorder, which in the absence of curative treatment, leads to death before 1 year of age in most cases. Caring for these short-lived and severely impaired infants requires palliative management. New drugs (nusinersen) have recently been developed that may modify SMA-1 natural his...

Background: The Pediatric Stroke Outcome Measure-Summary of Impressions (PSOM-SOI) measures neurological function across right and left sensorimotor domains (Item A), language production (Item B), language comprehension (Item C), and cognition/behavior (Item D). Objective: This study was a cross-cultural adaptation into French of the PSOM-SOI an...

À l’heure des nouvelles thérapeutiques chez les personnes présentant une amyotrophie spinale antérieure ou spinal muscular atrophy (SMA), la mesure régulière, précise et fiable des capacités motrices est devenue indispensable. Différents outils ont été développés dans la littérature et peuvent être utilisés pour cela. Le choix d’une échelle/ d’un o...

Objective: To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs). Methods: Over the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Asse...

Cerebral palsy (CP), an umbrella term for a developmental motor disorder caused by early brain injury (EBI)/interference, remains debated. In this essay, we present a narrative, beginning with the original anatomical-clinical description of the so-called paralysie congéniale (congenial paralysis) by the French psychiatrist Jean-Baptiste Cazauvieilh...

Aim: This study aims to produce a Chinese translation and adaptation of the MFM-32 and examine its measurement parametric properties in Chinese population with neuromuscular diseases. Methods: The MFM-32-CN was validated by testing reliability, internal consistency, and construct validity. Results: The Interrater and intrarater reliability of MFM-3...

Background In children with cerebral palsy (CP), we have little information on when hip migration (HM) starts, what causes hip displacement, how HM changes over time, and how to halt this migration to avoid surgery. Objectives We aimed to estimate the prevalence of HM percentage (HMP) >4 0% in a homogeneous population of non-ambulant children with...

Objectives: Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures. Methods: We designed an international prospective and long...

Objective. The reliability and validity of a screening test for a deficit in elementary visuospatial perception (EVSP) were evaluated. Method. This prospective study collected performance from 210 typically-developing individuals and evaluated the internal consistency of the EVSP screening test. Test–retest reliability was examined with 25 individ...

Introduction The purpose of this study was to obtain a 6‐month natural history of motor function performance in individuals with RYR1‐RM using the Motor Function Measure (MFM‐32) and graded functional tests (GFTs), while facilitating preparation for interventional trials. Methods A total of 34 participants completed the MFM‐32 and GFTs at baseline...

Patients with neuromuscular diseases undergo frequent motor assessments. The MFM scale (Motor Function Measure) is a validated scale for all neuromuscular diseases. Tasks 18, 19, and 22 have the potential to have a digitized version on a Tablet. This article proposes to digitalize a first version of items 18, 19 and 22 based on MFM. The results sho...

The assessment of skeletal muscle disorders is based on clinical evaluations. Multimedia technologies have been recently added to the traditional procedures, helping therapists to record, play back and analyze patient´s movements. Researches using tablets have demonstrated a potential applicability of such technology in the treatment of patients wi...

Objective: To evaluate the safety and clinical efficacy of nusinersen in patients with spinal muscular atrophy type 1 (SMA1) older than 7 months. Methods: Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) an...

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its...

MFM scores in patients with SMA type 2 and 3. (TIF)

Baseline characteristics and medical history of enrolled patients. Abbreviations: bpm: breath per minute, BPAP: Bi-level positive airway pressure, CPAP: Continuous Positive Airway Pressure, IPV: Intrapulmonary Percussive Ventilation, NPV: Negative Pressure Ventilation, IPPV: Intermittent Positive Pressure Ventilation, AFO: Ankle and Foot Orthosis;...

Psychomotor development of patients with SMA type 2 and 3. Values are effectives per motor skill; * 0.001 < p ≤ 0.05; ** p ≤ 0.001; □ Application conditions of the Chi-square test not fully verified (theoretical effectives ≤ 5, too small effectives); a, b, c Subscript letters represent Post-hoc tests results. In a row, a same subscript letter indic...