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Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E (NeuroLGMD2E)

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ClinicalTrials.gov Identifier: NCT04509609
Recruitment Status : Recruiting
First Posted : August 12, 2020
Last Update Posted : August 12, 2020
Sponsor:
Information provided by (Responsible Party):
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Brief Summary:

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

Detailed Description:

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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Study Type : Observational
Estimated 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
Estimated Primary Completion Date : September 30, 2020
Estimated Study Completion Date : September 30, 2020


Group/Cohort Intervention/treatment
LGMD 2E with a genetic diagnosis
Any patient affected by LGMD 2E with a genetic diagnosis
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




Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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



Information from the National Library of Medicine

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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
Study Population
Patient affected by LGMD 2E that have received a genetical confirm of the diagnosis
Criteria

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

Information from the National Library of Medicine

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


Locations
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Italy
IRCCS Ca' Granda Ospedale Maggiore Policlinico Recruiting
Milano, Italy, 20122
Contact: Yvan Torrente    +39 025503874    yvan.torrente@policlinico.mi.it   
Sponsors and Collaborators
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
  Study Documents (Full-Text)

Documents provided by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico:
Study Protocol  [PDF] April 24, 2020
Informed Consent Form  [PDF] April 24, 2020

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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: August 12, 2020
Last Verified: August 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: under EU GDPR, this would be extremely complex

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Disease Progression
Disease Attributes
Pathologic Processes