Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

Last updated: March 2, 2023
Sponsor: Nationwide Children's Hospital
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT03492346
IRB18-00224
  • Ages 3-15
  • All Genders

Study 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).

Eligibility Criteria

Inclusion

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 familyand medical history. If suspected, genetic testing will be performed to confirmdiagnosis.
  • Weakness demonstrated based on history of difficulty running, jumping and climbingstairs
  • Ability to complete 100MW timed test within 30-90% predicted
  • Perform assessments to the best of their ability with reliable results as deemed bythe evaluator.
  • Ability to attend scheduled appointments
  • Ability to provide informed consent (or assent for ages 9-15)

Exclusion

Exclusion Criteria:

  • Confirmed diagnosis of neuromuscular disorder other than LGMD2E
  • Has a medical condition or extenuating circumstance that, in the opinion of theinvestigator, might compromise the subject's ability to comply with the protocolrequired testing or procedures or compromise the subject's wellbeing, safety, orclinical interpretability
  • Subjects with AAVrh74 binding antibody titers > 1:400 as determined by ELISAimmunoassay. If endpoint titer is positive at screening, testing may be repeated in 1month. Antibody testing will be performed on a separate study (IRB17-01101).
  • Diagnosis of (or ongoing treatment for) an autoimmune disease

Study Design

Total Participants: 25
Study Start date:
March 28, 2018
Estimated Completion Date:
March 28, 2023

Study 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.

Connect with a study center

  • Nationwide Children's Hospital

    Columbus, Ohio 43205
    United States

    Active - Recruiting

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