Category Archives: Research News

Using Patient Registries and Multi-Gene Panels: A Paradigm Shift in the Pursuit of Genetic Diagnosis for Rare Pediatric Disorders

Patient registries provide a powerful resource to identify undiagnosed patient cohorts and collect cross-sectional and longitudinal clinical information on those individuals. For rare disorders, such as the congenital myopathies, a patient registry with curated patient-reported and medical report data may serve as the ideal tool to focus molecular testing. Indeed, molecular testing, which utilizes next [...]

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Diagnostic Approach to the Congenital Muscular Dystrophies

Abstract Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review [...]

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Mestinon Use in People with DNM2 Mutations and Centronuclear Myopathy

A recent article highlighted a possible treatment for people with DNM2 mutations and centronuclear myopathy.  The medication is called mestinon (pyridostigmine). It is a medication that works at the neuromuscular junction, where the nerve meets the muscle.   Click here to view/download the article. The reason people with DNM2 mutations get a muscle condition is still [...]

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Cure CMD Funds 3 New Research Grants in 2014

Losartan Trial in Dyw Mice- Dr. Sweta Girgenrath. This drug trial in the LAMA2-CMD mouse model will look at whether early treatment (two weeks) and late treatment (4 weeks) confers the same benefit and what the benefit of sustained treatment is.  This is a two year grant that will evaluate biomarkers in mouse muscle and [...]

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Researchers Identify Novel Therapy to Treat Muscular Dystrophy

June 25, 2013 — Researchers at Boston University College of Health & Rehabilitation Sciences: Sargent College have identified a combinatorial therapeutic approach that has proven effective in treating muscular dystrophy in a mouse model. The findings, published in Human Molecular Genetics, represent a paradigm shift for the treatment of muscular dystrophy as well as a [...]

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Using exon skipping technology in a model system of Ullrich congenital muscular dystrophy

From Muscular Dystrophy Campaign A group of scientists from Italy has used exon skipping technology to restore the production of a protein called collagen VI in a model system of Ullrich congenital muscular dystrophy. The researchers used cells grown in the laboratory to demonstrate proof of principle that exon skipping might have the potential to [...]

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February 2013 Newsletter Available Now

Check your inbox or click here to view Cure CMD’s latest newsletter

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Update on University of Michigan Natural History Study for MTM-1, CNM and RYR1-Related Myopathies 

Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM), central core disease (CCD) and multiminicore disease. The study is intended to: • assess the progression of CNMs, CCD and multiminicore disease • identify potential therapeutic targets for these disorders • help [...]

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Concerned about how to get your child started on respiratory support?

Check out this publication by Resmed that describes techniques on how to make the introduction of respiratory support for your little one less threatening.

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FKRP and CMDIR Registries: Working Together

Cure CMD, the LGMD2I Fund and the Newcastle TREAT-NMD office announce a collaboration to promote clinical trial readiness for LGMD2I.  In anticipation of an LGMD2I clinical trial, we are working to align the 2 existing registries, one specific for FKRP and one for each of the other CMD-LGMD alpha dystroglycan related dystrophy (aDG-RD, dystroglycanopathy) genes. [...]

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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