Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-03-28

Study Completion Date

2023-03-28

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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).

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)

NCT00494195

Muscular Dystrophies

COMPLETED PHASE1

Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E

NCT03488784

Limb-Girdle Muscular Dystrophy Type 2A Limb-Girdle Muscular Dystrophy, Type 2E

COMPLETED

A Study of EDG-5506 in Children With Duchenne Muscular Dystrophy (LYNX)

NCT05540860

Duchenne Muscular Dystrophy

ACTIVE_NOT_RECRUITING PHASE2

A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice

NCT04475926

Limb-girdle Muscular Dystrophy

ACTIVE_NOT_RECRUITING

Limb Girdle Muscular Dystrophy (LGMD) Natural History

NCT01783509

Muscular Dystrophies, Limb-Girdle (GENETICALLY CONFIRMED)

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Limb-Girdle Muscular Dystrophy, Type 2E

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are 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

Minimum Eligible Age

3 Years

Maximum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No