NeuroLGMD2E: Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E

Sponsor

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico (Other)

Overall Status

Completed

CT.gov ID

NCT04509609

Collaborator

(none)

Enrollment

Location

Actual Duration (Months)

2.1

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
LGMD2E	Other: Exon 3 truncating mutation Other: Any other mutation in SGBC gene

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.

Study Design

Study Type:

Observational

Actual Enrollment :

33 participants

Observational Model:

Cohort

Time Perspective:

Retrospective

Official Title:

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

Actual Study Start Date :

Jun 1, 2020

Actual Primary Completion Date :

Sep 30, 2020

Actual Study Completion Date :

Sep 30, 2021

Arms and Interventions

Arm	Intervention/Treatment
LGMD 2E with a genetic diagnosis Any patient affected by LGMD 2E with a genetic diagnosis	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 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

Arm

Intervention/Treatment

LGMD 2E with a genetic diagnosis

Any patient affected by LGMD 2E with a genetic diagnosis

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

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

Outcome Measures

Primary Outcome Measures

Natural history [december 2020]
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.

Secondary Outcome Measures

Guidelines [december 2020]
The collection of clinical variables describing the progression of the disease will enable a better clinical management of these patients

Eligibility Criteria

Criteria

Ages Eligible for Study:

3 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	IRCCS Ca' Granda Ospedale Maggiore Policlinico	Milano		Italy	20122

Sponsors and Collaborators

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Investigators

None specified.

Study Documents (Full-Text)

More Information

Publications

None provided.

Responsible Party:

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

ClinicalTrials.gov Identifier:

NCT04509609

Other Study ID Numbers:

000000

First Posted:

Aug 12, 2020

Last Update Posted:

Mar 31, 2022

Last Verified:

Mar 1, 2022

Individual Participant Data (IPD) Sharing Statement:

Undecided

Plan to Share IPD:

Undecided

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Disease Progression

Study Results

No Results Posted as of Mar 31, 2022