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Clinical and Biochemical Features for the Identification of Dominant Calpainopathies

NCT05956132 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2023-07-21

No results posted yet for this study

Summary

Mutations in the CAPN3 gene cause muscular dystrophies with dysfunction in calpain-3. Calpainopathies are usually inherited in an autosomal recessive manner but in some families they can occur in a dominant inheritance. The significance of heterozygous variants is difficult to interpret in the absence of family history. In this study, the investigators will review the clinical and laboratory information in a cohort of patients identified in the participating centers, with the aim of improving the diagnostic strategy of dominant calpainopathies.

Conditions

  • Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A

Interventions

OTHER

retrospective study

data collection from clinical history and medical records

Sponsors & Collaborators

  • IRCCS Fondazione Stella Maris

    collaborator OTHER

  • Istituto Giannina Gaslini

    collaborator OTHER

  • Ospedale Policlinico San Martino

    collaborator OTHER

  • Universita di Verona

    collaborator OTHER

  • Azienda Ospedaliera Universitaria Senese

    collaborator OTHER

  • Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

    collaborator OTHER

  • IRCCS San Camillo, Venezia, Italy

    lead OTHER

Principal Investigators

  • RITA BARRESI, DR · IRCCS SAN CAMILLO

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-09-01
Primary Completion
2024-09-01
Completion
2025-06-05

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 NCT05956132 on ClinicalTrials.gov