Limb-Girdle Muscular Dystrophy, Type 2ENCT03492346
Limb Girdle Muscular Dystrophy Type 2E Recruitment Study
An observational study of Limb-Girdle Muscular Dystrophy, Type 2E, run by Nationwide Children's Hospital at 1 site in United States.
Trial summary
This study is to recruit and establish baseline measurements for potential subjects that may be eligible for a gene therapy trial. Specifically, this trial is recruiting individuals who are suspected or have been confirmed to have Limb Girdle Muscular Dystrophy type 2E (LGMD2E). Read more about this study
- Who is it for?
- Ages 3 to 15 years
- Conditions the study is for
- Limb-Girdle Muscular Dystrophy, Type 2E
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Mar 2018to 28 Mar 2023
- 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 to 15 years
- All sexes
- No healthy volunteers
- Child
Study population: * Confirmed LGMD2E diagnosis by genetic testing or * Suspected of having LGMD type 2E due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types
Who may be able to join
- Age 3-15 inclusive
- Males or females of any ethnic group
- SGCB DNA gene mutations at both alleles or suspected to have LGMD2E based on family and medical history. If suspected, genetic testing will be performed to confirm diagnosis.
- Weakness demonstrated based on history of difficulty running, jumping and climbing stairs
- Ability to complete 100MW timed test within 30-90% predicted
- Perform assessments to the best of their ability with reliable results as deemed by the evaluator.
- Ability to attend scheduled appointments
- Ability to provide informed consent (or assent for ages 9-15)
Who cannot join
- Confirmed diagnosis of neuromuscular disorder other than LGMD2E
- Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability
- Subjects with AAVrh74 binding antibody titers > 1:400 as determined by ELISA immunoassay. If endpoint titer is positive at screening, testing may be repeated in 1 month. Antibody testing will be performed on a separate study (IRB17-01101).
- Diagnosis of (or ongoing treatment for) an autoimmune disease
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Nationwide Children's Hospital
Columbus, Ohio, 43205
Sikder Hassan, 614-355-2602, Sikder.Hassan@nationwidechildrens.org
Amanda Nicholl, RN, 614-355-2765, Amanda.Nicholl@nationwidechildrens.org
About this study
This study is to recruit and establish baseline measurements for potential subjects that may be eligible for a gene therapy trial. Specifically, this trial is recruiting individuals who are suspected or have been confirmed to have Limb Girdle Muscular Dystrophy type 2E (LGMD2E).
Read the detailed description
This is a longitudinal observational study. It is a 24-month study with the possibility of extending the data time points. Visits will occur monthly. However, at the discretion of the PI, subjects may not be required to return monthly. These subjects may return at intervals ranging from 2 months to a max of 6 months apart.
In the situation that the subjects would fall out of the inclusion criteria or not be eligible for the LGMD2E gene therapy trial, they will be given the opportunity to roll over into the Natural History for LGMD (IRB17-01086). If a subject is invited to screen for the gene therapy trial they will discontinue this trial. By being in this study, it is not a guarantee that subjects will be invited to screen for the LGMD2E gene therapy trial.
- Conditions
- Limb-Girdle Muscular Dystrophy, Type 2E
- Keywords
- LGMD2E, Limb Girdle Muscular Dystrophy, sarcoglycanopathy, β -sarcoglycan, Natural History
- Medical subject headings
- Limb-girdle muscular dystrophy, type 2E, Muscular Dystrophies, Limb-Girdle, Sarcoglycanopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| LGMD2E Subject Population | Individuals: * Confirmed LGMD2E diagnosis by genetic testing or * Suspected of having LGMD type 2E due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types |
What is being measured
The primary outcome is the main question the study is designed to answer.
Baseline Measurements
Establish baseline measurements for potential subjects that may be enrolled into a gene therapy trial.
Measured: 2 years
Secondary outcomes (2)
Disease Progression
Better define the rate of disease progression and skeletal muscle involvement
Measured: 2 years
Registry
Generate a registry of well-characterized LGMD2E patients
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2018
- Study start28 Mar 2018
- Primary completion28 Mar 2023 (estimated)
- Study completion28 Mar 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Limb-Girdle Muscular Dystrophy, Type 2EStudies 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
- Other
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nationwide Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Myonexus Therapeutics
- Responsible party
- Principal investigator, Jerry R. Mendell, Nationwide Children's Hospital
- Investigators
- Jerry R Mendell, M.D., Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03492346
- Sponsor's protocol ID
- IRB18-00224
- Status last verified
- Mar 2023
- First submitted
- 3 Apr 2018
- Last updated
- 6 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Limb Girdle Muscular Dystrophy Type 2E Recruitment Study
- ClinicalTrials.gov ID
- NCT03492346
- Acronym / sponsor ID
- IRB18-00224
- Conditions
- Limb-Girdle Muscular Dystrophy, Type 2E
- Keywords
- LGMD2E, Limb Girdle Muscular Dystrophy, sarcoglycanopathy, β -sarcoglycan, Natural History
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Nationwide Children's HospitalUniversity, hospital or other
- Collaborators
- Myonexus Therapeutics
- Study start
- 28 Mar 2018 (actual)
- Primary completion
- 28 Mar 2023 (estimated)
- Study completion
- 28 Mar 2023 (estimated)
- First posted
- 10 Apr 2018 (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.
This study is to recruit and establish baseline measurements for potential subjects that may be eligible for a gene therapy trial. Specifically, this trial is recruiting individuals who are suspected or have been confirmed to have Limb Girdle Muscular Dystrophy type 2E (LGMD2E).
Detailed description
This is a longitudinal observational study. It is a 24-month study with the possibility of extending the data time points. Visits will occur monthly. However, at the discretion of the PI, subjects may not be required to return monthly. These subjects may return at intervals ranging from 2 months to a max of 6 months apart.
In the situation that the subjects would fall out of the inclusion criteria or not be eligible for the LGMD2E gene therapy trial, they will be given the opportunity to roll over into the Natural History for LGMD (IRB17-01086). If a subject is invited to screen for the gene therapy trial they will discontinue this trial. By being in this study, it is not a guarantee that subjects will be invited to screen for the LGMD2E gene therapy trial.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| LGMD2E Subject Population | – | –Individuals: * Confirmed LGMD2E diagnosis by genetic testing or * Suspected of having LGMD type 2E due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types |
Who may qualify
- Ages
- 3 to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- * Confirmed LGMD2E diagnosis by genetic testing or * Suspected of having LGMD type 2E due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types
Key inclusion criteria (8 listed)
- Age 3-15 inclusive
- Males or females of any ethnic group
- SGCB DNA gene mutations at both alleles or suspected to have LGMD2E based on family and medical history. If suspected, genetic testing will be performed to confirm diagnosis.
- Weakness demonstrated based on history of difficulty running, jumping and climbing stairs
- Ability to complete 100MW timed test within 30-90% predicted
Key exclusion criteria (4 listed)
- Confirmed diagnosis of neuromuscular disorder other than LGMD2E
- Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability
- Subjects with AAVrh74 binding antibody titers > 1:400 as determined by ELISA immunoassay. If endpoint titer is positive at screening, testing may be repeated in 1 month. Antibody testing will be performed on a separate study (IRB17-01101).
- Diagnosis of (or ongoing treatment for) an autoimmune disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Baseline Measurements
Time frame: 2 years
Establish baseline measurements for potential subjects that may be enrolled into a gene therapy trial.
2 secondary outcomes
Disease Progression
Time frame: 2 years
Registry
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2023.
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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.
Jerry R Mendell, M.D. principal investigator
Nationwide Children's Hospital
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 Limb-Girdle Muscular Dystrophy, Type 2E, run by Nationwide Children's Hospital at 1 site in United States.
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 8 inclusion and 4 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 6 Mar 2023. 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 United States. 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?
Contact Sikder Hassan (614-355-2602, Sikder.Hassan@nationwidechildrens.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Baseline Measurements (time frame: 2 years). 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 6 Mar 2023; AzTrials last refreshed its copy on 29 Oct 2026.