Clinical and Biochemical Features for the Identification of Dominant Calpainopathies

NCT05956132 | Unknown

• 1 other identifier: 2023.08
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 2

Brief 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

Outcome Measures

Primary Outcomes (4)

• Muscle strenght

  Evaluation of muscle strength with MRC Scale (score 1-5 from weaker to stronger)

  through study completion, an average of 1 year

• Muscle biopsy

  Evaluation of histology and calpain 3 expression (present, reduced, absent)

  through study completion, an average of 1 year

• Creatin Kinase

  Amount of creatine kinase in blood in units (U) of enzyme activity per liter (L) of serum

  through study completion, an average of 1 year

• Clinical history

  Data collection sheet from clinical records

  through study completion, an average of 1 year

Interventions

retrospective study OTHER

data collection from clinical history and medical records

Eligibility Criteria

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

Study Population

Suitable subjects identified in the participating centers.

You may qualify if:

• Clinical LGMD phenotype, family history with dominant inheritance or sporadic cases, single variant in CAPN3, second variant excluded by MLPA (Multiplex Ligation Probe Amplification) or by analysis of mRNA extracted from muscle.

You may not qualify if:

• No variants in CAPN3, two variants in CAPN3

Sponsors & Collaborators

• IRCCS San Camillo, Venezia, Italy: lead
• IRCCS Fondazione Stella Maris: collaborator
• Istituto Giannina Gaslini: collaborator
• Ospedale Policlinico San Martino: collaborator
• Universita di Verona: collaborator
• Azienda Ospedaliera Universitaria Senese: collaborator
• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: collaborator

Study Sites (2)

San Camillo Irccs

Venice-Lido, VE, 30126, Italy

Location

IRCCS San Camillo

Venice-Lido, Italy

Location

Related Publications (1)

• D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R. Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. Int J Mol Sci. 2025 Nov 25;26(23):11384. doi: 10.3390/ijms262311384.

  PMID: 41373542 DERIVED

MeSH Terms

Conditions

Limb-girdle muscular dystrophy type 2A

Interventions

Retrospective Studies

Intervention Hierarchy (Ancestors)

Case-Control Studies; Epidemiologic Studies; Epidemiologic Study Characteristics; Epidemiologic Methods; Investigative Techniques; Cohort Studies; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• RITA BARRESI, DR

  IRCCS SAN CAMILLO

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: June 30, 2023
• First Posted: July 21, 2023
• Study Start: September 1, 2023
• Primary Completion: September 1, 2024
• Study Completion: June 5, 2025
• Last Updated: July 21, 2023

Record last verified: 2023-07

Data Sharing

• IPD Sharing: Will not share

Locations

IT (2)