LAMA2-related Muscular Dystrophy Brain Study

NCT01952028 | Withdrawn

• 1 other identifier: CMDIR-003
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief 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)

Keywords

MDC1A; Congenital Muscular Dystrophy; Merosin Deficient; LAMA2; brain white matter abnormalities; Seizure

Outcome Measures

Primary Outcomes (1)

• Identify and grade the structural brain abnormalities observed on MRI

  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.

  up to 5 months

Secondary Outcomes (3)

• Seizure History

  up to 8 months

• Evaluation of baseline and diagnostic electroencephalograms

  up to 8 months

• Examine the association between brain MRI structural abnormalities and EEG findings

  up to 11 months

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

LAMA2-MD

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

Sponsors & Collaborators

• Cure CMD: lead
• Congenital Muscle Disease International Registr: collaborator

Study Sites (1)

CMDIR

San Pedro, California, 90732, United States

Location

Related Publications (10)

• Brockmann K, Dechent P, Bonnemann C, Schreiber G, Frahm J, Hanefeld F. Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency. Brain Dev. 2007 Jul;29(6):357-64. doi: 10.1016/j.braindev.2006.11.003. Epub 2006 Dec 15.

  PMID: 17174499 BACKGROUND

• Caro PA, Scavina M, Hoffman E, Pegoraro E, Marks HG. MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol. 1999 Feb;20(2):324-6.

  PMID: 10094364 BACKGROUND

• Fujii Y, Sugiura C, Fukuda C, Maegaki Y, Ohno K. Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy. Brain Dev. 2011 Feb;33(2):140-4. doi: 10.1016/j.braindev.2010.02.003. Epub 2010 Mar 19.

  PMID: 20303224 BACKGROUND

• Gilhuis HJ, ten Donkelaar HJ, Tanke RB, Vingerhoets DM, Zwarts MJ, Verrips A, Gabreels FJ. Nonmuscular involvement in merosin-negative congenital muscular dystrophy. Pediatr Neurol. 2002 Jan;26(1):30-6. doi: 10.1016/s0887-8994(01)00352-6.

  PMID: 11814732 BACKGROUND

• Leite CC, Lucato LT, Martin MG, Ferreira LG, Resende MB, Carvalho MS, Marie SK, Jinkins JR, Reed UC. Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. Pediatr Radiol. 2005 Jun;35(6):572-9. doi: 10.1007/s00247-004-1398-y. Epub 2005 Mar 5.

  PMID: 15750812 BACKGROUND

• Leite CC, Reed UC, Otaduy MC, Lacerda MT, Costa MO, Ferreira LG, Carvalho MS, Resende MB, Marie SK, Cerri GG. Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging. Radiology. 2005 Apr;235(1):190-6. doi: 10.1148/radiol.2351031963. Epub 2005 Feb 9.

  PMID: 15703311 BACKGROUND

• Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E. Congenital muscular dystrophies with cognitive impairment. A population study. Neurology. 2010 Sep 7;75(10):898-903. doi: 10.1212/WNL.0b013e3181f11dd5.

  PMID: 20820001 BACKGROUND

• Mercuri E, Gruter-Andrew J, Philpot J, Sewry C, Counsell S, Henderson S, Jensen A, Naom I, Bydder G, Dubowitz V, Muntoni F. Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. Neuromuscul Disord. 1999 Oct;9(6-7):383-7. doi: 10.1016/s0960-8966(99)00034-6.

  PMID: 10545041 BACKGROUND

• Vigliano P, Dassi P, Di Blasi C, Mora M, Jarre L. LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. Eur J Paediatr Neurol. 2009 Jan;13(1):72-6. doi: 10.1016/j.ejpn.2008.01.010. Epub 2008 Apr 11.

  PMID: 18406646 BACKGROUND

• van der Knaap MS, Smit LM, Barth PG, Catsman-Berrevoets CE, Brouwer OF, Begeer JH, de Coo IF, Valk J. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol. 1997 Jul;42(1):50-9. doi: 10.1002/ana.410420110.

  PMID: 9225685 BACKGROUND

MeSH Terms

Conditions

Muscular dystrophy congenital, merosin negative; Seizures

Condition Hierarchy (Ancestors)

Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Anne Rutkowski, MD, PhD

  Cure CMD

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 19, 2013
• First Posted: September 27, 2013
• Study Start: November 1, 2013
• Primary Completion: November 1, 2014
• Study Completion: December 1, 2014
• Last Updated: March 7, 2018

Record last verified: 2015-10

Locations

US (1)