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.|
|ClinicalTrials.gov Identifier: NCT03488784|
Recruitment Status : Recruiting
First Posted : April 5, 2018
Last Update Posted : September 18, 2020
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|
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.
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|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 2022|
|Estimated Study Completion Date :||June 2022|
- Strength [ Time Frame: 6 months ]Force production testing using standardized equipment
- Walking speed [ Time Frame: 6 months ]Timing how fast the person can walk 100 meters
- Physical functioning [ Time Frame: 6 months ]Observing or surveying how well a person can perform activities of daily living
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): NCT03488784
|Contact: Megan Iammarino||614 722-6881||NMDtrialinfo@nationwidechildrens.org|
|United States, Ohio|
|Nationwide Children's Hospital||Recruiting|
|Columbus, Ohio, United States, 432015|
|Contact: Karen White 614-722-2708 email@example.com|
|Principal Investigator: Linda Lowes, PT, PhD|
|Principal Investigator:||Linda Lowes, PT PhD||Nationwide Children's Hospital|