Active clinical trials for "Neuromuscular Diseases"

Validation of a measure specifically suitable to evaluate the residual function of upper limbs of non-ambulant neuromuscular patients, especially with Duchenne muscular dystrophy and spinal muscular atrophy. This approach is of fundamental importance for clinical monitoring and preparing the future therapeutic trials.

Parents of children with neuromuscular disease have been already at risk of depression, anxiety and burden. Additionally, the daily lives of children with neuromuscular disease and their parents have been significantly affected by the COVID-19 pandemic. Therefore, this study investigated parents' perspective on the effect of the COVID-19 pandemic on children with neuromuscular diseases and themselves.

Des vaccins sont désormais disponibles en France, dont le vaccin Moderna COVID-19 qui est basé sur la technologie des ARNm. La séquence génétique qu'il contient code pour la protéine Spike (S) de l'enveloppe virale, protéine clé de la pénétration du virus dans les cellules qu'il infecte. Le vaccin ARNm est injecté par voie intramusculaire et pénètre dans les fibres musculaires, qui sont des cellules produisant des protéines en très grande quantité en continu, notamment pour la production de myofibrilles impliquées dans la contraction musculaire. Une fois à l'intérieur de la fibre musculaire, l'ARNm vaccinal est traduit par la machinerie de la fibre musculaire permettant une grande quantité de protéine Spike (S) qui sera présentée au système immunitaire provoquant la réponse vaccinale et notamment les anticorps neutralisants anti-S (NAb). Ces NAb anti-S agissent en perturbant l'interaction entre la protéine S du virus et le récepteur ACE2 (Angiotensin-Converting Enzyme 2), qui sert généralement de " passerelle " entre le virus et la cellule. Une campagne de vaccination est actuellement en cours au MAS-YDK avec le vaccin Moderna. Cette population est donc relativement homogène en termes d'amyotrophie, de non exposition au SARS-CoV-2 et de protocole vaccinal.

Different tools may be used to monitor the efficacy of home mechanical ventilation. Investigators aimed to compare the prognostic value of the different data obtained by capno-oxymetry in a mechanical ventilated neuromuscular disease's population.

The Electronic Medical Records and Genomics (eMERGE) Network is in its third phase and during this time is enrolling and sequencing 25,000 individuals on a custom sequencing panel of clinically relevant, actionable genes. The genetic results will be returned to participants and outcomes tracked through the electronic health records.

The main objective will be to determine the effectiveness of home non-invasive ventilation by flow-time and time-pressure curves analysis in a cohort of patients with this treatment by digital diagnosis platform.

We aimed to evaluate chewing function (CF) in children with neuromuscular disorders, and investigate reliability of the Karaduman Chewing Performance Scale (KCPS).

The aim of this study is to evaluate different devices to quantify upper limb function (Motriplate) and strength (Myogrip, Myopinch) in non-ambulatory patients with neuromuscular disorder. Motriplate measures the ability of the patient to reproduce a repetitive movement of the wrist to push two 5cm*5cm targets during 30 seconds. One hundred patients aged 8-30 years and 60 controls will be evaluated during twelve months (M0, M6 and M12) with theses new tools, and results will be compared to other testing, such as wrist, grip and pinch strength, taping, MFM measurement, and self evaluation of hand ability.

The study investigates the prevalence and use of mechanical insufflation - exsufflation (MI-E) in children with Neuromuscular disorders (NMD) in Norway. The NMD related prevalence of MIE use in Norway will be described and possible regional differences regarding use will be assessed.

The conventional hypoxic challenge test might not predict 'fitness-to-fly' equally well in all patients. Patients at risk of hypercapnia with supplemental oxygen are not well studied. Th investigators will study children who have either neuromuscular weakness or central hypoventilation and who require nocturnal or intermittent daytime ventilator support. The study also aims to assess feasibility of a randomised controlled trial (RCT) comparing the standard hypoxic standard test to a modified test designed to better suit children with type two respiratory failure.