Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

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).

Study Overview

• Status: Recruiting
• Conditions: Limb-Girdle Muscular Dystrophy, Type 2E

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.

• Study Type: Observational
• Enrollment (Anticipated): 25

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 15 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

• 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

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Baseline Measurements	Establish baseline measurements for potential subjects that may be enrolled into a gene therapy trial.	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Disease Progression	Better define the rate of disease progression and skeletal muscle involvement	2 years
Registry	Generate a registry of well-characterized LGMD2E patients	2 years

Collaborators and Investigators

• Sponsor: Nationwide Children's Hospital
• Collaborators: Myonexus Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): March 28, 2018
• Primary Completion (Anticipated): March 28, 2023
• Study Completion (Anticipated): March 28, 2023

Study Registration Dates

• First Submitted: April 3, 2018
• First Submitted That Met QC Criteria: April 3, 2018
• First Posted (Actual): April 10, 2018

Study Record Updates

• Last Update Posted (Estimate): March 6, 2023
• Last Update Submitted That Met QC Criteria: March 2, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: Natural History; Limb Girdle Muscular Dystrophy; sarcoglycanopathy; β -sarcoglycan; LGMD2E
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle
• Other Study ID Numbers: IRB18-00224

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No