Natural History Study of Children With LAMA2-related Dystrophies

Last updated: December 9, 2024
Sponsor: Institut de Myologie, France
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

Motor evaluations

Cardiac evaluation

Spine X Ray

Clinical Study ID

NCT06354790
NatHis LAMA2
  • Ages 2-15
  • All Genders

Study Summary

The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.

The aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials.

Participants will be follow up during a two years period regarding exhaustive aspects of the pathology:

  • Muscular function

  • Respiratory function

  • Cognitive phenotyping

  • Quality of life

  • Growth parameters

  • Biomarkers

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Signed informed consent by the Legal Authority Responsible and/or assent by thesubject (starting from 6 years old)

  • Subject must be

  • Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:

  • Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory includedon an approved list of genetic testing laboratories (Annex 1)) or

  • Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenicvariant in the LAMA2 gene

  • Absence of another confirmed neurological genetic disease

  • Willingness to maintain current exercise and/or physical therapy regimen for theduration of the clinical study

  • Willingness to comply with the study protocol, including all the mandatory studyprocedures and visits

  • Affiliated to or a beneficiary of a French or acknowledged in France, socialsecurity scheme

Exclusion

Exclusion Criteria:

  • Developmental quotient less than 70 and/or behavioral disorder requiring generalanesthesia to perform an MRI

  • Acute medical illness or hospitalization within 30 days prior to informed consent

  • Participation in a previous trial of any investigational agent for LAMA2-RD, or useof any other investigational therapy within 30 days prior to informed consent, orparticipation in other clinical studies, within 30 days (or 5 half-lives, whicheveris longer) prior to informed consent, which, in the opinion of the PI, maypotentially confound results from this study

  • Other significant medical condition and/or overall fragility of medical status,which in the opinion of the Investigator may confound interpretation of the clinicalcourse of LAMA2-RD

  • Pregnant or breastfeeding women

Study Design

Total Participants: 40
Treatment Group(s): 8
Primary Treatment: Motor evaluations
Phase:
Study Start date:
December 05, 2024
Estimated Completion Date:
December 31, 2027

Study Description

The international workshop on LAMA2-RD, held in 2019 in Maastricht, stressed the importance of the identification of LAMA2-RD patients and the natural history studies worldwide. Together with the recent progress in preclinical applications, the road to therapy is paved.

However, no effective treatment has currently received market approval. Given the phenotype variability in LAMA2-RD patients, even in very young ones, determining which outcome measure(s) could be the most appropriate to assess the efficacy of potential therapies, and which variables are prognostic of the disease course, is required. In consequence, it is clearly necessary to explore all the aspects of the pathology: physiological, clinical/motor, biological, aligning with current or future international studies though collaboration.

Unlike results obtained through a retrospective study, data from a prospective natural history will be less subject to bias and error. Control of the studied population will also lead to reduce the variability of the results. The different variables explored during this study aim to cover all aspects of the disease and appear to be relevant candidates as outcomes.

The aim of the study is to focus on the clinical phenotyping and to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials. One other objective is to validate the use of a large subset of outcome measures in LAMA2-RD. Adding an electrophysiological data will give more insight to the neuropathology of the disease and enlarge the scope of futures therapies.

An exploratory part will test if denaturation profiling of plasma from patients can be used to follow disease progression. Finally, serum and plasma samples from patients will also be stored for future studies focused on searching and validating novel biomarkers in LAMA2-RD.

Connect with a study center

  • Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré

    Garches,
    France

    Site Not Available

  • Service de MPR pédiatrique L'Escale - HCL

    Lyon,
    France

    Site Not Available

  • Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac

    Montpellier,
    France

    Site Not Available

  • Plateforme d'essais cliniques pédiatriques iMotion

    Paris,
    France

    Active - Recruiting

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