LAMA2-related Muscular Dystrophy Brain Study

Withdrawn before enrolling

Conditions studied: LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)

In brief

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.

Key facts

Study ID: NCT01952028
Run by: Cure CMD
People needed: 0
Starts: 2013-11-01
Expected to finish: 2014-12-01
Last updated by the study team: 2018-03-07

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

Individuals with LAMA2-MD who have not had a brain MRI

Where it is running

CMDIR — San Pedro, California, United States

Full record on ClinicalTrials.gov

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