A5029044138- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- Neurological disorders and treatments
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- Peripheral Neuropathies and Disorders
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Digestive system and related health
- Muscle activation and electromyography studies
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Mechanical Circulatory Support Devices
- Myasthenia Gravis and Thymoma
- Sirtuins and Resveratrol in Medicine
- Eating Disorders and Behaviors
- Neurological and metabolic disorders
- Calcium signaling and nucleotide metabolism
- Traumatic Brain Injury Research
- Hemophilia Treatment and Research
- Infectious Encephalopathies and Encephalitis
Royal Brompton Hospital
2024
Great Ormond Street Hospital
2020-2024
University College London
2020-2024
Evelina London Children's Healthcare
2024
Sheffield Children's Hospital
2015-2023
Sheffield Children's NHS Foundation Trust
2015-2023
National Health Service
2012-2018
Queen's Medical Centre
2013-2014
<h3>Importance</h3> Vamorolone is a synthetic steroidal drug with potent anti-inflammatory properties. Initial open-label, multiple ascending dose-finding studies of vamorolone among boys Duchenne muscular dystrophy (DMD) found significant motor function improvement after 6 months treatment in higher-dose (ie, ≥2.0 mg/kg/d) groups. <h3>Objective</h3> To investigate outcomes 30 open-label treatment. <h3>Design, Setting, and Participants</h3> This nonrandomized controlled trial was conducted...
To describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients type 2 nonambulant 3 spinal muscular atrophy (SMA).This was 8-year retrospective observational study International SMA Consortium (iSMAc) natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC percent predicted (FVC%P), noninvasive ventilation (NIV) requirement. Hammersmith Functional Motor Scale (HFMS) revised Performance...
Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use older heavier children. This study evaluated OA patients with SMA type 1 UK, including ≥2 years old weighing ≥13.5 kg.
Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), protein family members lack predicted domains. We sought to translate insight gained from yeast studies uncover disease mechanisms associated deficiencies of unknown function.Novel variants new published were assessed for causality...
Nusinersen has shown significant functional motor benefit in the milder types of spinal muscular atrophy (SMA). Less is known on respiratory outcomes patients with nusinersen-treated SMA. The aim this study was to describe changes function pediatric SMA type 2 and 3 regular treatment nusinersen within iSMAc international cohort compare their trajectory natural history (NH) data published by consortium 2020.
The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5-12 years with Duchenne muscular dystrophy (DMD).We considered glucocorticoids (GC) use, dystrophin isoforms amenability exon 8, 44, 45, 51 53 skipping drug subgroups, the impact on loss ambulation. We analysed 598 boys, 2604 observations. This analysis patients from UK NorthStar database (2003-2020) one five regimes: "GC naïve", "deflazacort...
Abstract Three therapies are now available for the treatment of type 1 spinal muscular atrophy: onasemnogene abeparvovec (OA), nusinersen, and risdiplam. We present a retrospective, single-center case series detailing our center's experience with six patients diagnosed atrophy who switched from risdiplam to OA. Risdiplam was discontinued day before OA infusion, we evaluate safety aspects this switch. All continued until administration OA, wash out period between 24 33 hours prior. have had...
Abstract In this case series of four paediatric patients, we present the first described cases immunotherapy‐responsive autoimmune nodopathy with IgG2 antineurofascin antibodies. three cases, antibodies were predominantly subclass, a novel finding in comparison to previously adult where IgG4 and/or IgG1/3 have typically been described. One patient had low signal for predominant IgG1 and antibodies, pattern commonly seen patients. Two patients targeting all neurofascin isoforms (155, 186,...
Background: We describe a family with hypomyelination brainstem and spinal cord involvement leg spasticity (HBSL), rare genetic condition causing motor impairment. Case Presentation: Whole exome sequencing (DDD study) was performed on the proband who presented symptoms. Sanger done two affected siblings to validate result confirm segregation of variant phenotype. The phenotype magnetic resonance imaging pattern were compared. index case her found have same compound heterozygous mutations in...
Retrospective review of referrals to the National-Multidisciplinary-Team (NMDT) in England (& Wales), and clinical records SMAtype1 patients included for Zolgensma® therapy UK. Data was available 42 patients: 13, 12, 10, 6, 1 from Evelina-London, Sheffield, Bristol, Manchester Belfast centres respectively. Patients’ age ranged 2-months 46-months weights 4.44kg 13.5kg. Post-Zolgensma-infusion monitoring: Most had asymptomatic thrombocytopaenia week-1, resolving by week-2. No thrombotic...
Background: We describe a family with hypomyelination brainstem and spinal cord involvement leg spasticity (HBSL), rare genetic condition causing motor impairment. Case Presentation: Whole exome sequencing (DDD study) was performed on the proband who presented symptoms. Sanger done two affected siblings to validate result confirm segregation of variant phenotype. The phenotype magnetic resonance imaging pattern were compared. index case her found have same compound heterozygous mutations in...
<b>Introduction:</b> SMA is a neurodegenerative disease with severe muscle atrophy and weakness of limbs trunk due to loss function SMN1 gene. The clinical severity best related the number nearly identical SMN2 gene copies which can be modified by nusinersen. Licensed for types 1,2,3, it delivered intrathecal on days 0, 14, 28, at 2 months then 4 monthly. <b>Aims:</b> To compare respiratory outcomes before after treatment <b>Methods:</b> We collected retrospectivelly data hospital admissions...