Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2ADOM-CALNCT05956132
Clinical and Biochemical Features for the Identification of Dominant Calpainopathies
An observational study of Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, run by IRCCS San Camillo, Venezia, Italy at 2 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A
- What is being tested?
- retrospective study
- How many people
- 50 participants
- Where
- 2 sitesItaly
- Study dates
- 1 Sep 2023to 5 Jun 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Suitable subjects identified in the participating centers.
Who may be able to join
- 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.
Who cannot join
- No variants in CAPN3, two variants in CAPN3
Trial locations and contacts
2 sites in 1 country.
Italy2 sites
San Camillo Irccs
Venice-Lido, VE, 30126
IRCCS San Camillo
Venice-Lido
About this study
Official title: Retrospective Analysis of Clinical and Biochemical Features for the Identification of Dominant Inheritance of Calpainopathies
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.
Read the 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.
- Being tested
- retrospective study
- Medical subject headings
- Limb-girdle muscular dystrophy type 2A
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
retrospective studyOther
data collection from clinical history and medical records
What is being measured
The primary outcome is the main question the study is designed to answer.
Muscle strenght
Evaluation of muscle strength with MRC Scale (score 1-5 from weaker to stronger)
Measured: through study completion, an average of 1 year
Muscle biopsy
Evaluation of histology and calpain 3 expression (present, reduced, absent)
Measured: 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
Measured: through study completion, an average of 1 year
Clinical history
Data collection sheet from clinical records
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jul 2023
- Study start1 Sep 2023 (estimated)
- Primary completion1 Sep 2024 (estimated)
- Study completion5 Jun 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2AStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS San Camillo, Venezia, Italy
- Sponsor type
- University, hospital or other
- Collaborators
- 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
- Responsible party
- Sponsor
- Investigators
- RITA BARRESI, DR, Principal investigator, IRCCS SAN CAMILLO
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05956132
- Sponsor's protocol ID
- 2023.08
- Acronym
- DOM-CAL
- Status last verified
- Jul 2023
- First submitted
- 30 Jun 2023
- Last updated
- 21 Jul 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Data and images may be disclosed in strictly anonymous form through meetings, conferences and scientific publications. In any case, the name or any other detail suitable for identifying the individual participant will not be disclosed as the data may only be presented in aggregate form.
Publications
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.
PubMed 41373542
Study at a glance
From the registry record, last updated by the sponsor on 21 Jul 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Retrospective Analysis of Clinical and Biochemical Features for the Identification of Dominant Inheritance of Calpainopathies
- ClinicalTrials.gov ID
- NCT05956132
- Acronym / sponsor ID
- DOM-CAL / 2023.08
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- IRCCS San Camillo, Venezia, ItalyUniversity, hospital or other
- Collaborators
- 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
- Study start
- 1 Sep 2023 (estimated)
- Primary completion
- 1 Sep 2024 (estimated)
- Study completion
- 5 Jun 2025 (estimated)
- First posted
- 21 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Suitable subjects identified in the participating centers.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- No variants in CAPN3, two variants in CAPN3
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| retrospective studydata collection from clinical history and medical records | Other | – |
Primary outcome
Muscle strenght
Time frame: through study completion, an average of 1 year
Evaluation of muscle strength with MRC Scale (score 1-5 from weaker to stronger)
Muscle biopsy
Time frame: through study completion, an average of 1 year
Evaluation of histology and calpain 3 expression (present, reduced, absent)
Creatin Kinase
Time frame: 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
Time frame: through study completion, an average of 1 year
Data collection sheet from clinical records
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Jul 2023.
- Derived from this study: PubMed 41373542D'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.
- Individual participant dataSharing planned: No. Data and images may be disclosed in strictly anonymous form through meetings, conferences and scientific publications. In any case, the name or any other detail suitable for identifying the individual participant will not be disclosed as the data may only be presented in aggregate form.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
RITA BARRESI, DR principal investigator
IRCCS SAN CAMILLO
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, run by IRCCS San Camillo, Venezia, Italy at 2 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 21 Jul 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Muscle strenght (time frame: through study completion, an average of 1 year). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05956132, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Jul 2023.