LGMD2ENeuroLGMD2ENCT04509609
Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E
An observational study of LGMD2E, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- LGMD2E
- What is being tested?
- Exon 3 truncating mutation and Any other mutation in SGBC gene
- How many people
- 33 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jun 2020to 30 Sep 2021
- 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 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient affected by LGMD 2E that have received a genetical confirm of the diagnosis
Who may be able to join
- Gene based diagnosis of LGMD 2E
- Subscription of informed consent when applicable
Who cannot join
- Lacking gene based diagnosis of LGMD 2E
- Lacking subscription of informed consent when applicable
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- LGMD2E
- Being tested
- Exon 3 truncating mutation, Any other mutation in SGBC gene
- Medical subject headings
- Limb-girdle muscular dystrophy, type 2E
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Exon 3 truncating mutationOther
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
Any other mutation in SGBC geneOther
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
| Study group | Role | What they receive |
|---|---|---|
| LGMD 2E with a genetic diagnosis | Any patient affected by LGMD 2E with a genetic diagnosis Receives: Other: Exon 3 truncating mutation; Other: Any other mutation in SGBC gene |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: december 2020
Secondary outcomes (1)
Guidelines
The collection of clinical variables describing the progression of the disease will enable a better clinical management of these patients
Measured: december 2020
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Aug 2020
- Study start1 Jun 2020
- Primary completion30 Sep 2020
- Study completion30 Sep 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LGMD2EStudies of the same condition, open and under way.
- More trials run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoThe sponsor's other registered studies.
- 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
- 33 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04509609
- Sponsor's protocol ID
- 000000
- Acronym
- NeuroLGMD2E
- Status last verified
- Mar 2022
- First submitted
- 9 Jul 2020
- Last updated
- 31 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: under EU GDPR, this would be extremely complex
Study at a glance
From the registry record, last updated by the sponsor on 31 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E
- ClinicalTrials.gov ID
- NCT04509609
- Acronym / sponsor ID
- NeuroLGMD2E / 000000
- Conditions
- LGMD2E
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 33 participants (actual)
- Lead sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoUniversity, hospital or other
- Study start
- 1 Jun 2020 (actual)
- Primary completion
- 30 Sep 2020 (actual)
- Study completion
- 30 Sep 2021 (actual)
- First posted
- 12 Aug 2020 (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.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| LGMD 2E with a genetic diagnosis | – | Other: Exon 3 truncating mutation, Other: Any other mutation in SGBC geneAny patient affected by LGMD 2E with a genetic diagnosis |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient affected by LGMD 2E that have received a genetical confirm of the diagnosis
Key inclusion criteria (2 listed)
- Gene based diagnosis of LGMD 2E
- Subscription of informed consent when applicable
Key exclusion criteria (2 listed)
- Lacking gene based diagnosis of LGMD 2E
- Lacking subscription of informed consent when applicable
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 |
|---|---|---|
| Exon 3 truncating mutationAny 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 | LGMD 2E with a genetic diagnosis |
| Any other mutation in SGBC geneAny 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 | Other | LGMD 2E with a genetic diagnosis |
Primary outcome
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.
1 secondary outcome
Guidelines
Time frame: december 2020
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Mar 2022.
- Individual participant dataSharing planned: Undecided. under EU GDPR, this would be extremely complex
Related trials for LGMD2E
Active, not recruitingPhase 3
A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4
Limb-girdle Muscular Dystrophy
Active, not recruitingPhase 1
A Gene Transfer Single Dose Study to Evaluate the Safety, Tolerability and Efficacy of SRP-9003 in Non-Ambulatory and Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2E/R4 (Beta-Sarcoglycan [β-SG] Deficiency)
Limb Girdle Muscular Dystrophy
RecruitingObservational study
Long-Term Development of Muscular Dystrophy Outcome Assessments
LGMD1B, LGMD1C
Active, not recruitingObservational study
A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
Limb-girdle Muscular Dystrophy
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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of LGMD2E, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site 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 2 inclusion and 2 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: finished, as of the sponsor's last update on 31 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Natural history (time frame: december 2020). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 31 Mar 2022.