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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:
Retrospective observational study. Retrospective data from clinical charts of patients affected by LGMD 2E will be collected after the subscription of informed consent.Data considered will include any clinical variable measured, both objective and subjective. All data obtained will be anonimized before any treatment. Data will be grouped according to the age of the patient, in order to have more data for each age and to gain a trustable description of the disease progression. The possible correlation of each variable to age, to other variables and to objective clinical outcomes will be studied. Clinical outcomes considered will include age of loss of deambulation, age of introduction of respiratory assist, age of introduction of cardiological therapy. Data collected will also be divided in two groups according to different genetic diagnosis in order to evaluate phenotipical differences of genotypical clesses. First group will count all patient with the truncating mutation c.377_384duplCAGTAGGA in exon 3, both in heterozigosis and in homozigosis Second group will include all the other patients.
Both on the global data collection and on data divided according to genotype, statistical analysis will be performed. Those analysis will study linear regression both with the univariate, bivariate and multivariate model.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| LGMD 2E with a genetic diagnosis | Any patient affected by LGMD 2E with a genetic diagnosis |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Exon 3 truncating mutation | Other | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Natural history | The clinical progression of the disease will be studied considering for each clinical variable its evolution according to patients' ages. This both in overall cohort and in genetic subgroups. | december 2020 |
| Measure | Description | Time Frame |
|---|---|---|
| Guidelines | The collection of clinical variables describing the progression of the disease will enable a better clinical management of these patients | december 2020 |
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Inclusion Criteria:
Exclusion Criteria:
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Patient affected by LGMD 2E that have received a genetical confirm of the diagnosis
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Ca' Granda Ospedale Maggiore Policlinico | Milan | 20122 | Italy |
under EU GDPR, this would be extremely complex
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Apr 24, 2020 | Jul 30, 2020 | Prot_000.pdf |
| ICF | No | No | Yes | Informed Consent Form | Apr 24, 2020 | Jul 30, 2020 | ICF_001.pdf |
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| ID | Term |
|---|---|
| C535902 | Limb-girdle muscular dystrophy, type 2E |
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| Any other mutation in SGBC gene | Other | 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 |
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