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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.


Recruitment information / eligibility

Status Completed
Enrollment 33
Est. completion date September 30, 2021
Est. primary completion date September 30, 2020
Accepts healthy volunteers No
Gender All
Age group 3 Years and older
Eligibility Inclusion Criteria: - Gene based diagnosis of LGMD 2E - Subscription of informed consent when applicable Exclusion Criteria: - Lacking gene based diagnosis of LGMD 2E - Lacking subscription of informed consent when applicable

Study Design


Related Conditions & MeSH terms


Intervention

Other:
Exon 3 truncating mutation
Any patient affected by LGMD 2E with a genetic diagnosis carrying the truncating mutation c.377_384duplCAGTAGGA on exon 3, both in homozygosis and in heterozygosis
Any other mutation in SGBC gene
Any patient affected by LGMD 2E with a genetic diagnosis other than the truncating mutation c.377_384duplCAGTAGGA on exon 3, both in homozygosis and in heterozygosis

Locations

Country Name City State
Italy IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano

Sponsors (1)

Lead Sponsor Collaborator
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Country where clinical trial is conducted

Italy, 

Outcome

Type Measure Description Time frame Safety issue
Primary Natural history The clinical progression of the disease will be studied considering for each clinical variable its evolution according to patients' ages. This both in overall cohort and in genetic subgroups. december 2020
Secondary Guidelines The collection of clinical variables describing the progression of the disease will enable a better clinical management of these patients december 2020
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