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Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

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ClinicalTrials.gov Identifier: NCT03492346
Recruitment Status : Recruiting
First Posted : April 10, 2018
Last Update Posted : March 6, 2023
Sponsor:
Collaborator:
Myonexus Therapeutics
Information provided by (Responsible Party):
Jerry R. Mendell, Nationwide Children's Hospital

Study Description
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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).

Condition or disease
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 Design
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Study Type : Observational
Estimated Enrollment : 25 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Limb Girdle Muscular Dystrophy Type 2E Recruitment Study
Actual Study Start Date : March 28, 2018
Estimated Primary Completion Date : March 28, 2023
Estimated Study Completion Date : March 28, 2023

Resource links provided by the National Library of Medicine


Groups and Cohorts
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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


Outcome Measures
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Primary Outcome Measures :
  1. Baseline Measurements [ Time Frame: 2 years ]
    Establish baseline measurements for potential subjects that may be enrolled into a gene therapy trial.


Secondary Outcome Measures :
  1. Disease Progression [ Time Frame: 2 years ]
    Better define the rate of disease progression and skeletal muscle involvement

  2. Registry [ Time Frame: 2 years ]
    Generate a registry of well-characterized LGMD2E patients


Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   3 Years to 15 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03492346


Contacts
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Contact: Sikder Hassan 614-355-2602 Sikder.Hassan@nationwidechildrens.org
Contact: Amanda Nicholl, RN 614-355-2765 Amanda.Nicholl@nationwidechildrens.org

Locations
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United States, Ohio
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Sikder Hassan    614-355-2602    Sikder.Hassan@nationwidechildrens.org   
Contact: Amanda Nicholl, RN    614-355-2765    Amanda.Nicholl@nationwidechildrens.org   
Principal Investigator: Jerry R Mendell, M.D.         
Sponsors and Collaborators
Nationwide Children's Hospital
Myonexus Therapeutics
Investigators
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Principal Investigator: Jerry R Mendell, M.D. Nationwide Children's Hospital
More Information
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Responsible Party: Jerry R. Mendell, Principal Investigator, Nationwide Children's Hospital
ClinicalTrials.gov Identifier: NCT03492346    
Other Study ID Numbers: IRB18-00224
First Posted: April 10, 2018    Key Record Dates
Last Update Posted: March 6, 2023
Last Verified: March 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Jerry R. Mendell, Nationwide Children's Hospital:
LGMD2E
Limb Girdle Muscular Dystrophy
sarcoglycanopathy
β -sarcoglycan
Natural History
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
 Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn