Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/17/2018 |
| Start Date: | January 5, 2018 |
| End Date: | January 2020 |
| Contact: | Maggie Dugan |
| Email: | maggie.dugan@nationwidechildrens.org |
| Phone: | 614 722-6881 |
Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E
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.
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.
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.
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.
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.
We found this trial at
1
site
700 Childrens Drive
Columbus, Ohio 43205
Columbus, Ohio 43205
(616) 722-2000
Principal Investigator: Linda Lowes, PT, PhD
Phone: 614-722-2708
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