Limb Girdle Muscular Dystrophy Type 2E Recruitment Study
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|ClinicalTrials.gov Identifier: NCT03492346|
Recruitment Status : Recruiting
First Posted : April 10, 2018
Last Update Posted : March 6, 2023
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|Condition or disease|
|Limb-Girdle Muscular Dystrophy, Type 2E|
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 Type :||Observational|
|Estimated Enrollment :||25 participants|
|Official Title:||Limb Girdle Muscular Dystrophy Type 2E Recruitment Study|
|Actual Study Start Date :||March 28, 2018|
|Estimated Primary Completion Date :||March 28, 2023|
|Estimated Study Completion Date :||March 28, 2023|
LGMD2E Subject Population
- Baseline Measurements [ Time Frame: 2 years ]Establish baseline measurements for potential subjects that may be enrolled into a gene therapy trial.
- Disease Progression [ Time Frame: 2 years ]Better define the rate of disease progression and skeletal muscle involvement
- Registry [ Time Frame: 2 years ]Generate a registry of well-characterized LGMD2E patients
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||3 Years to 15 Years (Child)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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
- 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)
- 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
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): NCT03492346
|Contact: Sikder Hassan||614-355-2602||Sikder.Hassan@nationwidechildrens.org|
|Contact: Amanda Nicholl, RN||614-355-2765||Amanda.Nicholl@nationwidechildrens.org|
|United States, Ohio|
|Nationwide Children's Hospital||Recruiting|
|Columbus, Ohio, United States, 43205|
|Contact: Sikder Hassan 614-355-2602 Sikder.Hassan@nationwidechildrens.org|
|Contact: Amanda Nicholl, RN 614-355-2765 Amanda.Nicholl@nationwidechildrens.org|
|Principal Investigator: Jerry R Mendell, M.D.|
|Principal Investigator:||Jerry R Mendell, M.D.||Nationwide Children's Hospital|
|Responsible Party:||Jerry R. Mendell, Principal Investigator, Nationwide Children's Hospital|
|Other Study ID Numbers:||
|First Posted:||April 10, 2018 Key Record Dates|
|Last Update Posted:||March 6, 2023|
|Last Verified:||March 2023|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Nervous System Diseases
Genetic Diseases, Inborn