Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A
Conditions
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.
Detailed description
The investigators will review clinical and biomarker information in a cohort of 50 patients with heterozygous variants in the CAPN3 gene. Patients are referred by participating centers who will provide anonymised information on the clinical phenotype and laboratory test results. Suitable subjects will be contacted to obtain informed consent. Pseudonymised anamnestic data will be collected from the patient's clinical history and medical records.The aim is to identify a set of multidisciplinary data sufficient to define a diagnostic algorithm for the dominant calpainopathies.
Interventions
OTHERretrospective study
data collection from clinical history and medical records
Sponsors
IRCCS Fondazione Stella Maris
Istituto Giannina Gaslini
Ospedale Policlinico San Martino
Universita di Verona
Azienda Ospedaliera Universitaria Senese
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
IRCCS San Camillo, Venezia, Italy
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* 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.
Exclusion criteria
* No variants in CAPN3, two variants in CAPN3
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Muscle strenght | through study completion, an average of 1 year | Evaluation of muscle strength with MRC Scale (score 1-5 from weaker to stronger) |
| Muscle biopsy | through study completion, an average of 1 year | Evaluation of histology and calpain 3 expression (present, reduced, absent) |
| Creatin Kinase | through study completion, an average of 1 year | Amount of creatine kinase in blood in units (U) of enzyme activity per liter (L) of serum |
| Clinical history | through study completion, an average of 1 year | Data collection sheet from clinical records |
Countries
Italy
Outcome results
None listed