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

NCT ID: NCT04509609

Last Updated: 2022-03-31

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 33 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2020-06-01
• Study Completion Date: 2021-09-30

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.

Detailed 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.

Conditions

LGMD2E

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

LGMD 2E with a genetic diagnosis

Any patient affected by LGMD 2E with a genetic diagnosis

Exon 3 truncating mutation

Intervention Type: OTHER

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

Intervention Type: OTHER

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

Interventions

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

Intervention Type: OTHER

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

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 3 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, , Italy

Countries

Italy

Provided Documents

Document Type: Study Protocol

View Document

Document Type: Informed Consent Form

View Document

Other Identifiers

000000

Identifier Type: -

Identifier Source: org_study_id