Ignite Creation Date:
2024-05-06 @ 3:03 PM
Last Modification Date:
2024-10-26 @ 1:42 PM
Study NCT ID:
NCT04509609
Status:
COMPLETED
Last Update Posted:
2022-03-31
First Post:
2020-07-09
Brief Title:
Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E
Sponsor:
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
Organization:
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
Study Overview
Official Title:
Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E
Status:
COMPLETED
Status Verified Date:
2022-03
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:
NeuroLGMD2E
Brief Summary:
A retrospective observational study that will enable us to collect retrospective data from the clinical records of LGMD 2E patients in order to highlight any possible correlation between
clinical variables and patient age
clinical variables and other clinical variables
clinical variables and clinical outcomes The study will help to define the natural history of this rare disease and to ameliorate the management of these patients
clinical variables and patient age
clinical variables and other clinical variables
clinical variables and clinical outcomes The study will help to define the natural history of this rare disease and to ameliorate the management of these patients
Detailed Description:
Retrospective observational study Retrospective data from clinical charts of patients affected by LGMD 2E will be collected after the subscription of informed consentData considered will include any clinical variable measured both objective and subjective All data obtained will be anonimized before any treatment Data will be grouped according to the age of the patient in order to have more data for each age and to gain a trustable description of the disease progression The possible correlation of each variable to age to other variables and to objective clinical outcomes will be studied Clinical outcomes considered will include age of loss of deambulation age of introduction of respiratory assist age of introduction of cardiological therapy Data collected will also be divided in two groups according to different genetic diagnosis in order to evaluate phenotipical differences of genotypical clesses First group will count all patient with the truncating mutation c377_384duplCAGTAGGA in exon 3 both in heterozigosis and in homozigosis Second group will include all the other patients
Both on the global data collection and on data divided according to genotype statistical analysis will be performed Those analysis will study linear regression both with the univariate bivariate and multivariate model
Both on the global data collection and on data divided according to genotype statistical analysis will be performed Those analysis will study linear regression both with the univariate bivariate and multivariate model
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