Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E

LGMD2E Clinical Trial

— NeuroLGMD2E  

Official title:

Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04509609
• Other study ID #: 000000
• Status: Completed
• 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
• 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

Related Conditions & MeSH terms

• Disease Progression
• LGMD2E

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