RECRUITING

Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

Conditions

Limb-Girdle Muscular Dystrophy, Type 2E LGMD2E Limb Girdle Muscular Dystrophy sarcoglycanopathy β -sarcoglycan Natural History

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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).

Official Title

Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

Quick Facts

Study Start:2018-03-28

Study Completion:2023-03-28

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT03492346

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.

Ages Eligible for Study:3 Years to 15 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD

Inclusion Criteria	Exclusion 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

Inclusion Criteria

Exclusion 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

Contacts and Locations

Study Contact

Sikder Hassan

CONTACT

614-355-2602

Sikder.Hassan@nationwidechildrens.org

Amanda Nicholl, RN

CONTACT

614-355-2765

Amanda.Nicholl@nationwidechildrens.org

Principal Investigator

Jerry R Mendell, M.D.

PRINCIPAL_INVESTIGATOR

Nationwide Children's Hospital

Study Locations (Sites)

Nationwide Children's Hospital

Columbus, Ohio, 43205

United States

Collaborators and Investigators

Sponsor: Nationwide Children's Hospital

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2018-03-28

Study Completion Date2023-03-28

Study Record Updates

Study Start Date2018-03-28

Study Completion Date2023-03-28

Terms related to this study

Keywords Provided by Researchers

LGMD2E
Limb Girdle Muscular Dystrophy
sarcoglycanopathy
β -sarcoglycan
Natural History

Additional Relevant MeSH Terms

Limb-Girdle Muscular Dystrophy, Type 2E