Recruiting

Observational Study

Sponsor:

Nationwide Children's Hospital

Code:

NCT03492346

Conditions

Limb-Girdle Muscular Dystrophy, Type 2E

Eligibility Criteria

Sex: All

Age: 3 - 15

Healthy Volunteers: Not accepted

Study Details

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).

Conditions

Limb-Girdle Muscular Dystrophy, Type 2E

Study ID

NCT03492346

Start date

Mar 28, 2018

Status verified date

Mar, 2023

Completion date

Mar 28, 2023

Anticipated

Primary completion date

Mar 28, 2023

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 3 - 15

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

25 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Primary outcome measure

  • Baseline Measurements [ Time Frame: 2 years ]

Central Contacts and Locations

Central contacts

Sikder Hassan

614-355-2602Sikder.Hassan@nationwidechildrens.org

Amanda Nicholl, RN

614-355-2765Amanda.Nicholl@nationwidechildrens.org

Locations

Nationwide Children's Hospital

Recruiting

Columbus, Ohio, United States, 43205

Contacts

Sikder Hassan

614-355-2602Sikder.Hassan@nationwidechildrens.org

Amanda Nicholl, RN

614-355-2765Amanda.Nicholl@nationwidechildrens.org

Principal Investigator:

Jerry R Mendell, M.D.

More Information

Sponsor

Nationwide Children's Hospital

Last update posted

Mar 6, 2023

Last verified

Mar, 2023

Keywords

  • LGMD2E
  • Limb Girdle Muscular Dystrophy
  • sarcoglycanopathy
  • β -sarcoglycan
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Nationwide Children's Hospital on 2023-03-06.