A Multicentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy in the United Kingdom: NatHis-NM-MDUK
Status: Recruiting
Location: See all (4) locations...
Study Type: Observational
SUMMARY
The goal of this study is to to learn more about what assessments would be useful to measure for NM and what normally happens during the lives of people with NM to support future clinical trial development.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• Patient and/or parent or legal guardian must be willing and have the ability to provide written informed consent for participation in the study.
• Male or Female
• Any age
• Diagnosis of NM which in most cases includes having a disease-causing variant/s in one of the known NM causative genes and a consistent clinical phenotype.
Locations
Other Locations
United Kingdom
Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital
NOT_YET_RECRUITING
London
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital
NOT_YET_RECRUITING
London
John Walton Muscular Dystrophy Research Centre, Newcastle University
RECRUITING
Newcastle
MDUK Oxford Neuromuscular Centre, University of Oxford
RECRUITING
Oxford
Contact Information
Primary
Prof Laurent Servais
laurent.servais@paediatrics.ox.ac.uk
+44 1865618799
Time Frame
Start Date: 2024-10-07
Estimated Completion Date: 2029-08
Participants
Target number of participants: 45
Treatments
Nemaline myopathy patients
Patients of any age and ability with a genetic and clinical diagnosis of Nemaline myopathy with no significant comorbidities. All patients will be evaluated for the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function, breathing, swallow function and Quality of life and fatigue. In addition it will collect data on continuous movement and gait analysis using real world data and wearable sensors (Syde and Maiju), blood samples for future genetic and proteomic analysis and respiratory analysis using ventilatory and thoraco-abdominal pattern for some paediatric participants.
Related Therapeutic Areas
Sponsors
Leads: University of Oxford
Collaborators: Muscular Dystrophy UK