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LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)NCT07125040

Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers

An observational study of LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) and LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\), run by Università Vita-Salute San Raffaele at 1 site in Italy.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. Read more about this study

Who is it for?
Any age
What is being tested?
Cardiac MRI
How many people
45 participants
Where
1 siteItaly
Study dates
31 Jul 2025to May 2028
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: Adult and pediatric patients affected by LAMA2-RD

Who may be able to join

  • Diagnosis of LAMA2-related dystrophy confirmed via:
  • Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of
  • merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or
  • Consistent phenotype and affected siblings with criteria a) or b) and
  • Ability to participate in study visits at least every 12 months during a 24 months period.
  • Ability to sign informed consent for adults or parents/ legal tutors for children

Who cannot join

  • Lack of a confirmed diagnosis of LAMA2-relate dystrophy
  • Inability to participate in study visits at least every 12 months
  • Medical fragility which precludes the ability to safely travel to the study site and/or participate in the study assessments

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Alberto A Zambon, MD, PhD contact

+390226435080

neuromuscolare@hsr.it

Italy1 site, 1 recruiting

  • Irccs Ospedale San Raffaele

    Milan, 20132

    Alberto A Zambon, MD, PhD, +390226435080, neuromuscolare@hsr.it

    Recruiting

Other trials in Italy

About this study

Official title: Characterization of the Natural History of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) Patients and Identification of Novel Disease Biomarkers

The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. The main questions it aims to answer are:

  • What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype?
  • What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype?
  • What is the extent of respiratory, nutritional, skeletal, and cognitive/brain involvement, particularly in adults with more severe vs less severe phenotypes?
  • How does quality of life and transition to adulthood occur in individuals with LAMA2-RD?
  • Which nomenclature best reflects differences in disease severity and may support future clinical trial design?
Read more

Study participants will:

  • Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers.
  • A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement.
  • Provide biological samples during routine blood testing for future research.
Read the detailed description

Background: LAMA2-RD is an autosomal recessive disorder due mutations in the LAMA2 gene. The clinical manifestations of LAMA2-RD range from severe, early-onset congenital muscular dystrophy (CMD) to a milder limb-girdle type muscular dystrophy (LGMDR23). A few promising therapies are getting closer to clinical application, but clinical trial readiness is limited by the paucity of natural history studies. Although some groups have recently shed light on different aspects of the disease, these are usually focused on pediatric populations. A detailed description of the disease in adult patients as well as the importance of specific organs involvement (e.g., heart and peripheral nervous system) are lacking.

Objectives: To describe the natural history of a large cohort of patients affected by LAMA2-RD (n=40-45).

Specifically, the investigators aim 1) to clarify the prevalence and characteristics of cardiac involvement, and to correlate the latter with age and muscular phenotype 2) to clarify the degree of neuropathic involvement 3) to clarify respiratory, nutritional, skeletal, and brain/cognitive involvement, with a focus on adult population 4) to clarify which nomenclature better captures differences in terms of disease severity, to help refine inclusion criteria for trials 5) to understand how quality of life is impacted and transition to adulthood performed 6) to collect biological material for future research Design and methods: This will be a multicenter, retrospective and prospective longitudinal observational study with additional procedures for a subset of patients: cardiac MRI with contrast enhancement and an additional sample handling during routine blood test. Patients will be assessed every 12 months over a period of 2 years. In addition to routine clinical assessments, cardiac MRI will be performed in a selected 20 adult population. The differential involvement of specific organs between LAMA2-RD subpopulations will be analyzed.

Being tested
Cardiac MRI
Keywords
LAMA2-RD, Natural history
Medical subject headings
Muscular dystrophy congenital, merosin negative

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Cardiac MRIOther

    On a subset of adult patients

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Rhythm abnormalities

    Prsence or absence of rhythm abnormalities (Brady arrhythmia, supraventricular and ventricular tachyarrhythmia) as detected by ECG and 24-hour Holter ECG

    Measured: 0, 12, 24 months

  2. Cardiac function

    Left ventricular end-diastolic volume (LVEDV) and left ventricular ejection fraction (LVEF) measured by transthoracic echocardiogram

    Measured: 0, 12, 24 months

  3. Cardiac inflammation and fibrosis

    Cardiac inflammation and fibrosis by cardiac Magnetic Resonance Imaging (MRI) (only in adult patients)

    Measured: T0

Secondary outcomes (12)

  1. Motor outcome 1

    The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) (0-2 years); maximum score 64

    Measured: 0, 12, 24 months

  2. Motor outcome 2

    Motor Function Measure (MFM20 2-5 years; maximum score 60; MFM32 ≥ 5 years; maximum score 96)

    Measured: 0,12, 24 months

  3. Motor outcome 3 (Upper limbs)

    Upper limbs function: Performance upper limb module 2.0. (PUL 2.0); maximum score 42

    Measured: 0, 12, 24 months

  4. Motor outcome 4 (Timed tests)

    6 minutes walk test (6MWT) - metres

    Measured: 0, 12, 24 months

  5. Motor outcome 4 (Timed tests)

    Timed rise from the floor (TRF) - seconds

    Measured: 0, 12, 24 months

  6. Motor outcome 5

    North Star Assessment for Limb-Girdle Type Muscular Dystrophies (NSAD); maximum score 54

    Measured: 0, 12, 24 months

  7. Respiratory function

    Lung function measurement (Forced vital capacity -FVC L/%predicted

    Measured: 0, 12, 24 months

  8. Respiratory function

    Forced Expiratory Volume in 1 second -- FEV1 L/%predicted

    Measured: 0, 12, 24 months

  9. Respiratory function

    Maximal Inspiratory Pressure- MIP

    Measured: 0, 12, 24 months

  10. Respiratory function

    Maximal Expiratory Pressure - MEP

    Measured: 0, 12, 24 months

  11. Respiratory function

    Peak exploratory flow - PEF

    Measured: 0, 12, 24 months

  12. Respiratory function

    Peak cough flow - PCF

    Measured: 0, 12, 24 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted15 Aug 2025
  2. Study start31 Jul 2025
  3. Primary completionMay 2027 (estimated)
  4. Study completionMay 2028 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Other
Enrolment
45 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT07125040
Sponsor's protocol ID
GUP24002_LAMA2
Status last verified
Aug 2025
First submitted
17 Jul 2025
Last updated
15 Aug 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Questions about this trial

What is this clinical trial studying?

An observational study of LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) and LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\), run by Università Vita-Salute San Raffaele at 1 site in Italy.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 15 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Alberto A Zambon, MD, PhD (+390226435080, neuromuscolare@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Rhythm abnormalities (time frame: 0, 12, 24 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT07125040.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Aug 2025.

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