Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

Description

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

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Study Overview

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Study Details

Study overview

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).

Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

Condition
Limb-Girdle Muscular Dystrophy, Type 2E
Intervention / Treatment

-

Contacts and Locations

Columbus

Nationwide Children's Hospital, Columbus, Ohio, United States, 43205

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)
  • * 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

Ages Eligible for Study

3 Years to 15 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Nationwide Children's Hospital,

Jerry R Mendell, M.D., PRINCIPAL_INVESTIGATOR, Nationwide Children's Hospital

Study Record Dates

2023-03-28