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

NCT04509609 | Completed

• 1 other identifier: 000000
• Study Type: observational
• Target: 33
• Locations: 1 country
• Sites: 1

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.

Conditions

LGMD2E

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Guidelines

  december 2020

Study Arms (1)

LGMD 2E with a genetic diagnosis

Any patient affected by LGMD 2E with a genetic diagnosis

Other: Exon 3 truncating mutation; Other: Any other mutation in SGBC gene

Interventions

Exon 3 truncating mutation 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

LGMD 2E with a genetic diagnosis

Any other mutation in SGBC gene 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

LGMD 2E with a genetic diagnosis

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient affected by LGMD 2E that have received a genetical confirm of the diagnosis

You may qualify if:

• Gene based diagnosis of LGMD 2E
• Subscription of informed consent when applicable

You may not qualify if:

• Lacking gene based diagnosis of LGMD 2E
• Lacking subscription of informed consent when applicable

Sponsors & Collaborators

• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: lead

Study Sites (1)

IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, 20122, Italy

Location

MeSH Terms

Conditions

Limb-girdle muscular dystrophy, type 2E

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 9, 2020
• First Posted: August 12, 2020
• Study Start: June 1, 2020
• Primary Completion: September 30, 2020
• Study Completion: September 30, 2021
• Last Updated: March 31, 2022

Record last verified: 2022-03

Locations

IT (1)