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Recruiting NCT07488806

Natural History Study for Patients With Nemaline Myopathy in Spain

— Observational Nemaline Myopathy Myopathies Myopathic Conditions NEB

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Muscle Ultrasound, Motor function scales, Complete physical examination, Ventilatory/ respiratory, Cardiac and other support assessment.
Who it may be relevant to
Registry conditions: Nemaline Myopathy, Myopathies, Myopathic Conditions, NEB. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Spain
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Interventions

  • 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)

Primary outcome measures

  • Observe changes in muscle echogenicity by muscle ultrasound. [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the Hammersmith Infant Neurological Examination Section 2 (HINE-2) [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in Peabody Developmental Motor Scales (PDMS-3) Scale Score [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the Motor Function Measure (MFM32) Scale Score [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in motor function using the North Star Ambulatory Assessment (NSAA) score [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe natural history changes in the Performance of Upper Limb (PUL) score [Time frame: Change from baseline through study completion, an average of 5 years]
Secondary outcome measures (3)
  • Observe the natural clinical progression in respiratory function. [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe changes in Nutritional Status [Time frame: Change from baseline through study completion, an average of 5 years]
  • Observe changes in Quality of Life [Time frame: Change from baseline through study completion, an average of 5 years]

Eligibility criteria

Inclusion criteria

  • 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).

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Spain · 1 center
  • University Hospital Vall d'Hebron — Barcelona

Identifiers

NCT: NCT07488806 · PR(AMI)251/2025

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗