Natural History Study for Patients With Nemaline Myopathy in Spain
Hospital Universitari Vall d'Hebron Research Institute
100 participants
Jun 1, 2026
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria2
- Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
- Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population).
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Interventions
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Evaluation of patients motor function using motor scales (CHOP-INTEND, MFM32, HINE-2, NSAA, PDSM-3, RFF, 10m walk, PUL)
Complete physical evaluations including muscle power and goniometry measurements
Assessment of ventilatory, cardiac, nutritional, and other support needs
Assessment of quality of life
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.
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor milestones age of acquisition and loss (if applicable)
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT07488806