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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03488784
Recruitment Status : Recruiting
First Posted : April 5, 2018
Last Update Posted : December 7, 2021
Information provided by (Responsible Party):
Linda Pax Lowes, Nationwide Children's Hospital

Brief Summary:

This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years.

Medical records for enrolled patients will be abstracted at baseline and annually to obtain clinical information, and data will be recorded for the study. Eligible patients will be asked to provide informed consent and to complete semi-annual patient surveys and functional assessments. The patient surveys will include selected PRO instrument(s) along with additional questions to characterize the patient's perception of disease.

Condition or disease
Limb-Girdle Muscular Dystrophy Type 2A Limb-Girdle Muscular Dystrophy, Type 2E

Detailed Description:

Neuromuscular disease can be characterized by progressive muscle degeneration, impaired pulmonary status, and decreased cardiac function.(1-8) Additionally, these neuromuscular disorders can be rare, and therefore difficult to establish the natural progression of each disease.The natural history of each neuromuscular disorder provides valuable information about the specific progression of the disease, which can guide in understanding which outcomes to measure in order to show change for clinical trials. Experimental treatments for many of these neuromuscular disorders are currently being assessed in clinical trials with others in the pipeline for upcoming clinical trials in the near future. Thus, the need to reliably and objectively detect small, meaningful changes in daily functional activities in order to serve as a supportive measure of efficacy in clinical trials is of great importance.

Functional and strength measures have been utilized as primary, secondary or exploratory outcomes in clinical trials studying the efficacy of drug therapies. Many of these outcome measures have been shown to be reliable and have been validated in neuromuscular disease.

This longitudinal study aims to characterize the clinical progression and functional impact on patients with neuromuscular disorders over time by evaluating functional and patient-reported outcomes (PROs). The association between functional impairment and long-term outcomes, such as loss of mobility, falls, and quality of life, will be examined.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E
Actual Study Start Date : January 5, 2018
Estimated Primary Completion Date : June 2025
Estimated Study Completion Date : June 2025

Primary Outcome Measures :
  1. Strength [ Time Frame: 6 months ]
    Force production testing using standardized equipment

Secondary Outcome Measures :
  1. Walking speed [ Time Frame: 6 months ]
    Timing how fast the person can walk 100 meters

  2. Physical functioning [ Time Frame: 6 months ]
    Observing or surveying how well a person can perform activities of daily living

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:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals suspected of having LGMD type 2E or type 2A due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types. Individuals with a diagnosis of LGMD2E or LGMD2A with genetic testing including carriers of type 2E or type 2A

Inclusion Criteria:

Suspected LGMD2A or LGMD2E by symptoms and having a family member diagnosed with 2A or 2E, or have genetic confirmation of one of these two types of LGMD themselves.

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 9-18)

Exclusion Criteria:

Confirmed diagnosis of neuromuscular disorder other than LGMD2E or LGMD2A 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 well being, safety, or clinical interpretability.

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 identifier (NCT number): NCT03488784

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Contact: Megan Iammarino 614 722-6881

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United States, Ohio
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 432015
Contact: Karen White    614-722-2708   
Principal Investigator: Linda Lowes, PT, PhD         
Sponsors and Collaborators
Linda Pax Lowes
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Principal Investigator: Linda Lowes, PT PhD Nationwide Children's Hospital
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Responsible Party: Linda Pax Lowes, Principal Investigator, Nationwide Children's Hospital Identifier: NCT03488784    
Other Study ID Numbers: IRB17-01086
First Posted: April 5, 2018    Key Record Dates
Last Update Posted: December 7, 2021
Last Verified: December 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
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