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

NCT04509609 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 33

Last updated 2022-03-31

No results posted yet for this study

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

Interventions

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

Sponsors & Collaborators

  • Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

    lead OTHER

Eligibility

Min Age
3 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-06-01
Primary Completion
2020-09-30
Completion
2021-09-30

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04509609 on ClinicalTrials.gov