Clinical Trial Details
— Status: Completed
Administrative data
NCT number |
NCT04509609 |
Other study ID # |
000000 |
Secondary ID |
|
Status |
Completed |
Phase |
|
First received |
|
Last updated |
|
Start date |
June 1, 2020 |
Est. completion date |
September 30, 2021 |
Study information
Verified date |
March 2022 |
Source |
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico |
Contact |
n/a |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial 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.
Description:
Retrospective observational study. Retrospective data from clinical charts of patients
affected by LGMD 2E will be collected after the subscription of informed consent.Data
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 c.377_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.