NCT07488806

Natural History Study for Patients With Nemaline Myopathy in Spain

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Hospital Universitari Vall d'Hebron Research Institute · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed description

The aims of the study are: * Identify the specific genes and mutations responsible for NM in Spain. * Define the in-depth phenotyping of NM and the phenotype-genotype relationship. * Characterize the natural history of NM through the systematic collection of clinical (retrospective and prospective data), functional, and respiratory data in diagnosed patients in order to: * Describe the progression of the disease without disease-modifying therapies. * Identify reliable biomarkers and outcome measures for future clinical trials. * Align the national protocol with international efforts to generate comparable data.

Conditions

• Nemaline Myopathy
• Myopathies
• Myopathic Conditions
• NEB
• ACTA1
• TPM2
• TPM3
• TNNT1
• CFL2
• KBTBD13
• KLHL40
• KLHL41
• LMOD3
• Cohort Studies
• MYPN
• TNNT3

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Muscle Ultrasound	Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
DIAGNOSTIC_TEST	Motor function scales	Evaluation of patients motor function using motor scales (CHOP-INTEND, MFM32, HINE-2, NSAA, PDSM-3, RFF, 10m walk, PUL)
OTHER	Complete physical examination	Complete physical evaluations including muscle power and goniometry measurements
OTHER	Ventilatory/ respiratory, Cardiac and other support assessment	Assessment of ventilatory, cardiac, nutritional, and other support needs
OTHER	QOL assessment, Neuropsychological	Assessment of quality of life
DEVICE	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.
OTHER	Oromotor function and nutrition	Assessment of bulbar funcionality: feeding devices, nutritional status.
OTHER	Motor Milestone Assessments	Motor milestones age of acquisition and loss (if applicable)

Timeline

• Start date: 2026-06-01
• Primary completion: 2031-06-01
• Completion: 2032-06-01
• First posted: 2026-03-23
• Last updated: 2026-03-23

Locations

1 site across 1 country: Spain