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Natural History Study for Patients With Nemaline Myopathy in Spain
Sponsor: Hospital Universitari Vall d'Hebron Research Institute
Summary
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2026-06
Completion Date
2032-06
Last Updated
2026-03-23
Healthy Volunteers
No
Conditions
Interventions
Muscle Ultrasound
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Motor function scales
Evaluation of patients motor function using motor scales (CHOP-INTEND, MFM32, HINE-2, NSAA, PDSM-3, RFF, 10m walk, PUL)
Complete physical examination
Complete physical evaluations including muscle power and goniometry measurements
Ventilatory/ respiratory, Cardiac and other support assessment
Assessment of ventilatory, cardiac, nutritional, and other support needs
QOL assessment, Neuropsychological
Assessment of quality of life
Digital Biomarkers
Video/photos with the aim is to record actions such as lifting a glass, raising arms above the head, getting up from the floor or a chair, walking, or running, in order to later analyze in detail how these movements are performed.
Oromotor function and nutrition
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor Milestone Assessments
Motor milestones age of acquisition and loss (if applicable)
Locations (1)
University Hospital Vall d'Hebron
Barcelona, Spain