Spanish Natural History Study for LAMA2 Muscular Dystrophy
April 5, 2025 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 LAMA2-related dystrophies (LAMA2-RD) in the pediatric population.
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
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
- Name: David Gómez-Andrés
- Phone Number: +34934893156
- Email: david.gomezandres@vallhebron.cat
Study Locations
-
-
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Barcelona, Spain, 08035
- Recruiting
- University Hospital Vall d'Hebron
-
Contact:
- Neurologia Pediatrica - HUVH
- Phone Number: 934893156
- Email: neurologia.pediatrica@vallhebron.cat
-
-
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
All patients with compatible clinical presentation and genetical confirmation LAMA2-RD
Description
Inclusion Criteria:
- All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant
- Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
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
Compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant
|
Evaluation of patients motor function using motor scales (MFM32, CHOP)
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Assess the mechanical properties of muscles, such as stiffness and elasticity.
Complete physical evaluations including muscle power and goniometry measurements
Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor milestones age of acquisition and loss
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Change in Motor function Measurement (MFM32) score
Time Frame: Change from baseline through study completion, an average of 5 years
|
Global motor functioning.
The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function.
Higher scored indicate a better outcome.
The range of the total score is 0-96.
The main point of interest includes the change of MFM score yearly, over a period of 5 years.
|
Change from baseline through study completion, an average of 5 years
|
|
Change in Motor Milestones
Time Frame: Change from baseline through study completion, an average of 5 years
|
Age at acquisition (yes/no) and loss of all motor functions (ex: Head control, sitting, standing, walking, running, climbing stairs and tip toe walking)
|
Change from baseline through study completion, an average of 5 years
|
|
Change 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, and 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
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
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 (Actual)
July 27, 2021
Primary Completion (Estimated)
July 1, 2030
Study Completion (Estimated)
July 1, 2030
Study Registration Dates
First Submitted
March 7, 2025
First Submitted That Met QC Criteria
April 5, 2025
First Posted (Actual)
April 11, 2025
Study Record Updates
Last Update Posted (Actual)
April 11, 2025
Last Update Submitted That Met QC Criteria
April 5, 2025
Last Verified
April 1, 2025
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- PR(AMI)/433/2021
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
product manufactured in and exported from the U.S.
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.