Christian de Goede
A5058065311- Muscle Physiology and Disorders
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Multiple Sclerosis Research Studies
- Muscle activation and electromyography studies
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Transplantation: Methods and Outcomes
- Genetic Neurodegenerative Diseases
- Peripheral Neuropathies and Disorders
- Renal Transplantation Outcomes and Treatments
- Neonatal and fetal brain pathology
- RNA modifications and cancer
- Reading and Literacy Development
- Child and Adolescent Health
- RNA Research and Splicing
- Language Development and Disorders
- Cerebral Palsy and Movement Disorders
- Urinary Bladder and Prostate Research
- Pelvic floor disorders treatments
- Systemic Sclerosis and Related Diseases
Lancashire Teaching Hospitals NHS Foundation Trust
2014-2025
Royal Preston Hospital
2015-2024
Lancaster University
2015-2023
University College London
2012-2016
University of Manchester
2016
Manchester Academic Health Science Centre
2016
Manchester University
2016
MRC Laboratory for Molecular Cell Biology
2016
National Hospital for Neurology and Neurosurgery
2012-2015
Children's National
2015
To assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy UK, and compare benefits adverse events daily versus intermittent prednisolone regimens.A prospective longitudinal observational study across 17 neuromuscular centres UK 360 boys aged 3-15 years with confirmed who were treated or (10 days on/10 off) for a mean duration treatment 4 years.The median loss ambulation was 12 14.5 treatment; HR 1.57 (95% CI 0.87 to 2.82). A fitted multilevel model comparing regiments...
To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.Patients a suggestive motor, non-length-dependent neuronopathy predominantly affecting limbs were identified at participating neuromuscular centers and referred for targeted sequencing DYNC1H1.We report cohort 30 cases SMA-LED from 16 families, carrying tail motor domains DYNC1H1,...
<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...
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as main cause of syndrome. Here we describe results mutation analysis 62 patients presenting with cataracts myopathy or combinations at least two these. We...
To identify early prognostic factors of relapse and disability in children presenting with an acute idiopathic transverse myelitis (TM).Ninety-five TM from 2 national European cohorts (France United Kingdom) CNS demyelinating diseases were identified studied for that predict using logistic regression models.Sixteen (17%) relapsed, a diagnosis multiple sclerosis 13 (14%) neuromyelitis optica 3 (3%). Logistic revealed main criteria as risk relapse: female sex (odds ratio [OR] 3.21, 95%...
Abstract Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a extracellular-matrix protein, is involved the formation and maintenance of neuromuscular synapse that appears independent Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. Here, we report phenotypic spectrum 16 patients from 11 kinships harbouring homozygous or heteroallelic...
Distinct clinical syndromes have been associated with pathogenic MT‐ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected and 37 asymptomatic carriers. Thirty‐one presented Leigh syndrome 7 neuropathy ataxia retinitis pigmentosa. The remaining 50 patients variable nonsyndromic features ataxia, neuropathy, learning disability. We confirmed maternal inheritance in 39 families demonstrated that tissue segregation patterns phenotypic...
Juvenile forms of parkinsonism are rare conditions with onset bradykinesia, tremor and rigidity before the age 21 years. These atypical presentations commonly have a genetic aetiology, highlighting important insights into underlying pathophysiology. Genetic defects may affect key proteins endocytic pathway clathrin-mediated endocytosis (CME), as in DNAJC6-related juvenile parkinsonism.To report on new patient cohort juvenile-onset DNAJC6 parkinsonism-dystonia determine functional...
Abstract Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for ‘actionable’ genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), where loss-of-function (LoF) cause neurodevelopmental (treatable) metabolic disorder males. The combination deep phenotyping data with functional computational tests outcomes population cohorts, enabled us to: (i) identify aetiology divergent...
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...
To characterize the underlying genetic defect in a family with 3 siblings affected by severe, yet viable, congenital disorder.Extensive and metabolic investigations were performed, children imaged at different ages. Whole-genome genotyping whole-exome sequencing undertaken. A single large region (>8 Mb) of homozygosity chromosome 4 (chr4:100,268,553-108,609,628) was identified that shared only siblings. Inspection variability within this led to identification novel mutation. Sanger confirmed...
Abstract Post-void alarm systems to monitor bedwetting in nocturnal enuresis (NE) have been deemed unsatisfactory. The aim of this study is develop a safe, comfortable and non-invasive pre-void wearable associated technologies using advanced mechatronics. Each stage development includes patient public involvement engagement (PPI). early stages the involved children with without NE (and parents) who were tested at hospital under supervision physicians, radiologists, psychologists, nurses....
There is little data on renal function in pediatric heart transplant recipients. Early rejection a major concern and most units run high cyclosporin A (CyA) levels during the 2 to 3 months after transplantation. We sought document long-term transplantation assess influence of early CyA levels.We reviewed all our transplants between June 1985 August 1998 who survived longer than 6 (n = 54). Glomerular filtration rate (GFR) was estimated at 1, 2, 4, 8 years posttransplantation using Schwartz...
Aim Difficulties in reading comprehension can arise from either word or listening difficulties, a combination of the two. We sought to determine whether children with rolandic epilepsy had poor relative typically developing comparison children, and such difficulties were associated and/or general language difficulties. Method In this cross‐sectional study, ( n =25; 16 males, 9 females; mean age 9y 1mo, SD 1y 7mo) group =39; 25 14 3mo) completed assessments comprehension, word/non‐word...
Unsatisfactory cure rates for the treatment of nocturnal enuresis (NE), i.e. bed-wetting, have led to need explore alternative modalities. New methods that focus on preventing enuretic episodes by means a pre-void alerting system could improve outcomes children with NE in many aspects. No such technology exists currently monitor bladder alarm before bed-wetting. The aim this study is carry out feasibility building, refining and evaluating new, safe, comfortable non-invasive wearable...
There is evidence that at least 5% of Multiple sclerosis (MS) cases manifest in childhood. Children with MS present a demyelinating episode involving single or multiple symptoms prior to developing second event (usually within two years) then meet criteria for diagnosis. from adult cohorts the incidence and sex ratios are changing children immigrants have higher risk MS. A paediatric population should reflect vanguard such changes may trends yet be observed cohorts. Studying first will allow...