Ignite Creation Date:
2024-05-06 @ 8:22 PM
Last Modification Date:
2024-10-26 @ 3:26 PM
Study NCT ID:
NCT06354790
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-04-09
First Post:
2024-03-20
Brief Title:
Natural History Study of Children With LAMA2-related Dystrophies
Sponsor:
Institut de Myologie France
Organization:
Institut de Myologie France
Study Overview
Official Title:
A Prospective Longitudinal Interventional Natural History Study of Children With LAMA2-related Dystrophies
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
LAMA2
Brief 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
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
Detailed 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 measures 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 clinicalmotor 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
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 measures 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 clinicalmotor 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None