Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E (NeuroLGMD2E)
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| ClinicalTrials.gov Identifier: NCT04509609 |
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Recruitment Status :
Completed
First Posted : August 12, 2020
Last Update Posted : March 31, 2022
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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:
- clinical variables and patient age,
- clinical variables and other clinical variables,
- clinical variables and clinical outcomes. The study will help to define the natural history of this rare disease and to ameliorate the management of these patients.
| Condition or disease | Intervention/treatment |
|---|---|
| LGMD2E | Other: Exon 3 truncating mutation Other: Any other mutation in SGBC gene |
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.
| Study Type : | Observational |
| Actual Enrollment : | 33 participants |
| Observational Model: | Cohort |
| Time Perspective: | Retrospective |
| Official Title: | Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E |
| Actual Study Start Date : | June 1, 2020 |
| Actual Primary Completion Date : | September 30, 2020 |
| Actual Study Completion Date : | September 30, 2021 |
| Group/Cohort | Intervention/treatment |
|---|---|
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LGMD 2E with a genetic diagnosis
Any patient affected by LGMD 2E with a genetic diagnosis
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Other: Exon 3 truncating mutation
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 Other: Any other mutation in SGBC gene 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 |
- Natural history [ Time Frame: december 2020 ]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.
- Guidelines [ Time Frame: december 2020 ]The collection of clinical variables describing the progression of the disease will enable a better clinical management of these patients
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| Ages Eligible for Study: | 3 Years and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Gene based diagnosis of LGMD 2E
- Subscription of informed consent when applicable
Exclusion Criteria:
- Lacking gene based diagnosis of LGMD 2E
- Lacking subscription of informed consent when applicable
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04509609
| Italy | |
| IRCCS Ca' Granda Ospedale Maggiore Policlinico | |
| Milano, Italy, 20122 | |
Documents provided by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico:
| Responsible Party: | Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico |
| ClinicalTrials.gov Identifier: | NCT04509609 |
| Other Study ID Numbers: |
000000 |
| First Posted: | August 12, 2020 Key Record Dates |
| Last Update Posted: | March 31, 2022 |
| Last Verified: | March 2022 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | Undecided |
| Plan Description: | under EU GDPR, this would be extremely complex |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Disease Progression Disease Attributes Pathologic Processes |