Limb-Girdle Muscular Dystrophy, Type 2E
Conditions
Keywords
LGMD2E, Limb Girdle Muscular Dystrophy, sarcoglycanopathy, β -sarcoglycan, Natural History
Brief 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).
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.
Interventions
None listed
Sponsors
Myonexus Therapeutics
Nationwide Children's Hospital
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
3 Years to 15 Years
Healthy volunteers
No
Inclusion criteria
* 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)
Exclusion criteria
* 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Baseline Measurements | 2 years | Establish baseline measurements for potential subjects that may be enrolled into a gene therapy trial. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Disease Progression | 2 years | Better define the rate of disease progression and skeletal muscle involvement |
| Registry | 2 years | Generate a registry of well-characterized LGMD2E patients |
Countries
United States
Contacts
Primary ContactSikder Hassan
Backup ContactAmanda Nicholl, RN
Outcome results
None listed