LAMA2-related Muscular Dystrophy Brain Study
| Status: | Withdrawn |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/17/2018 |
| Start Date: | November 2013 |
| End Date: | December 2014 |
A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation
Laminin alpha-2 (LAMA2)-related muscular dystrophy (LAMA2-MD, Merosin Deficient CMD) is a
form of congenital muscular dystrophy (CMD). A person with LAMA2-MD will have changes on
brain imaging (MRI), a decrease or absence of the protein merosin (laminin 211) on muscle or
skin biopsy and changes in the LAMA2 gene that are inherited from both parents. Several
studies have described the changes on brain MRI. Brain changes on MRI do not correlate with
the partial reduction or absence of merosin on muscle or skin biopsy. 8-30% of people with
LAMA2-MD develop seizures. The types of seizures, electroencephalogram changes and common
treatment regimens have not been characterized. This study will review the magnetic resonance
imaging (MRI) changes, determine whether certain brain MRI changes are linked to seizures and
define the common seizure treatment regimens.
form of congenital muscular dystrophy (CMD). A person with LAMA2-MD will have changes on
brain imaging (MRI), a decrease or absence of the protein merosin (laminin 211) on muscle or
skin biopsy and changes in the LAMA2 gene that are inherited from both parents. Several
studies have described the changes on brain MRI. Brain changes on MRI do not correlate with
the partial reduction or absence of merosin on muscle or skin biopsy. 8-30% of people with
LAMA2-MD develop seizures. The types of seizures, electroencephalogram changes and common
treatment regimens have not been characterized. This study will review the magnetic resonance
imaging (MRI) changes, determine whether certain brain MRI changes are linked to seizures and
define the common seizure treatment regimens.
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.
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.
Inclusion Criteria:
- Genetic confirmation of 2 variants in LAMA2 gene OR muscle biopsy with complete
absence of merosin
- Complete authorization to obtain medical records for Congenital Muscle Disease
International Registry
- Complete authorization to obtain medical records for National Institutes of Health
(NIH)
- Reside in United States or Canada
- Complete registration and intake survey in the Congenital Muscle Disease International
Registry
Exclusion Criteria:
- Individuals with LAMA2-MD who have not had a brain MRI
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