Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

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.

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