Natural History Study for Patients With Nemaline Myopathy in Spain

March 18, 2026 updated by: Hospital Universitari Vall d'Hebron Research Institute
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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.

Description

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).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
All patients
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
Other: Complete physical examination
Complete physical evaluations including muscle power and goniometry measurements
Other: Oromotor function and nutrition
Assessment of bulbar funcionality: feeding devices, nutritional status.
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: 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: Motor Milestone Assessments
Motor milestones age of acquisition and loss (if applicable)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Observe changes in muscle echogenicity by muscle ultrasound.
Time Frame: Change from baseline through study completion, an average of 5 years

A standardized muscle ultrasound protocol of assessment is performed (whole body). Muscle images are scored using the Heckmatt scale (score 1-4):

  • Heckmatt grade 1 represents a normal muscle image.
  • Heckmatt grade 2 shows an increased echogenicity without attenuation of the deeper image regions.
  • Heckmatt grade 3 indicates a larger increase in echogenicity with some visible loss of normal muscle architecture.
  • Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture.
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

The CHOP-INTEND assesses a child's ability to move their body in a lying down position, supported sitting, and assisted rolling through 16 items. Scores range from 0 to 64, with higher scores indicating better motor function.

Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability.
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
This is a 37-item measure of infant developmental motor milestones that will be performed in participants aged 0-24months. Scores are interpreted in relation to optimality scores and cut-off scores for the participant's age. Higher scores represented higher function.
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
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. PDMS-3 measures various motor abilities in young children. Four types of normative scores are yielded: age equivalents, percentile ranks, subtest scaled scores, and composite index scores. Higher scores indicate higher level of function.
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
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. This motor function assessment consists of 32 items organized in three dimensions: standing position and transfers, axial and limb proximal motor function, and limb distal motor function. Total scores are given between 0-100, with 0 indicating severe functional impairment and 100 indicating no functional impairment.
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
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. Scores in the NSAA scale range from 0 to 34, with higher scores indicating better motor function.
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
Change in upper limb function assessed using the Performance of Upper Limb (PUL) scale. Higher scores indicate better function.
Change from baseline through study completion, an average of 5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Observe the natural clinical progression in respiratory function.
Time Frame: Change from baseline through study completion, an average of 5 years
Respiratory function will be assessed longitudinally using age-appropriate measures depending on patient ability. Respiratory status will include ventilatory support requirements (none, non-invasive ventilation, or invasive ventilation) and time on/off ventilator, when feasible. Forced vital capacity (FVC), expressed as percent predicted for age and sex, will be used when spirometry is possible.
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
Assessment of nutritional status over time through indicators such as feeding method (oral versus enteral feeding) and need for nutritional support. Swallowing status and dietary modifications will be recorded when applicable. Changes from baseline will be analyzed to evaluate nutritional progression and feeding outcomes.
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
Assessment of patient or caregiver-reported quality of life using validated questionnaires appropriate for age and functional status, including standardized health-related quality of life instruments (the Clinical Global Impression-Severity [CGI-S], the Clinical Global Impression-Change [CGI-C], Patient Global Impression of Change [PGI-C], and Patient Global Impression of Severity [PGI-S]). Total scores and domain-specific scores will be analyzed. Changes from baseline will be evaluated to assess perceived health status and daily functioning.
Change from baseline through study completion, an average of 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospital Universitari Vall d'Hebron Research Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

June 1, 2026

Primary Completion (Estimated)

June 1, 2031

Study Completion (Estimated)

June 1, 2032

Study Registration Dates

First Submitted

February 25, 2026

First Submitted That Met QC Criteria

March 18, 2026

First Posted (Actual)

March 23, 2026

Study Record Updates

Last Update Posted (Actual)

March 23, 2026

Last Update Submitted That Met QC Criteria

March 18, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PR(AMI)251/2025

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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