LAMA2-related Muscular Dystrophy Brain Study
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|ClinicalTrials.gov Identifier: NCT01952028|
Recruitment Status : Withdrawn
First Posted : September 27, 2013
Last Update Posted : March 7, 2018
|Condition or disease|
|LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)|
LAMA2-MD is a congenital muscular dystrophy (CMD) subtype caused by mutations in the laminin alpha 2 gene. LAMA2-MD may present clinically as an early onset, severe phenotype or a late onset limb girdle phenotype. The early onset form is most commonly associated with a complete absence of merosin on muscle biopsy with profound neonatal hypotonia, possible respiratory distress and feeding difficulties while the late onset form presents with proximal muscle weakness, contractures and is able to achieve walking. In both early and late onset forms, brain white matter abnormalities have been described on brain MRI and approximately 8-30% develop a seizure disorder. On magnetic resonance (MR) spectroscopy, white matter changes are shown to be due to increased water content rather than areas of demyelination. Both, non-ambulant and ambulant patients may develop respiratory insufficiency requiring non-invasive ventilation and scoliosis.
Although several studies have evaluated the correlation between brain MRI white matter changes and cognition, no studies to date have provided a systematic evaluation of brain imaging, electrophysiologic testing and seizures in patients identified by molecular or immunohistochemical testing to have LAMA2-MD.
|Study Type :||Observational|
|Actual Enrollment :||0 participants|
|Official Title:||A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation|
|Study Start Date :||November 2013|
|Estimated Primary Completion Date :||November 2014|
|Estimated Study Completion Date :||December 2014|
- Identify and grade the structural brain abnormalities observed on MRI [ Time Frame: up to 5 months ]Both single and longitudinal brain MRIs will be retrieved with patient consent from hospitals within the United States. Two trained neuroradiologists will evaluate de-identified brain MRIs using a pre-determined scoring system to identify and classify structural abnormalities.
- Seizure History [ Time Frame: up to 8 months ]To obtain a seizure history on all individuals with LAMA2-MD who have had a seizure, including: type of seizures, age of seizure onset, seizure frequency, need for mechanical ventilation, seizure medications, and need for emergency room (ER) visit or hospitalization.
- Evaluation of baseline and diagnostic electroencephalograms [ Time Frame: up to 8 months ]Both baseline and diagnostic electroencephalograms (EEG) will be obtained with patient consent from hospitals within the United States. An epileptologist will review de-identified EEG recordings to identify and classify abnormalities using a predetermined scoring system.
- Examine the association between brain MRI structural abnormalities and EEG findings [ Time Frame: up to 11 months ]Compare the frequency of various grades of brain MRI abnormalities in individuals with LAMA2-MD with and without seizures. Identify any association between MRI abnormality and type of seizure.
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): NCT01952028
|United States, California|
|San Pedro, California, United States, 90732|
|Principal Investigator:||Anne Rutkowski, MD, PhD||Cure CMD|