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LAMA2-related Muscular Dystrophy Brain Study

NCT01952028 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2018-03-07

No results posted yet for this study

Summary

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.

Conditions

  • LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)

Sponsors & Collaborators

  • Congenital Muscle Disease International Registr

    collaborator OTHER

  • Cure CMD

    lead OTHER

Principal Investigators

  • Anne Rutkowski, MD, PhD · Cure CMD

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-11-30
Primary Completion
2014-11-30
Completion
2014-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01952028 on ClinicalTrials.gov