Liam’s Story

img_27261Liam was born June, 2006 in Denmark. Almost from birth, we realized there was something not quite right, as he was very floppy and did not move his arms and legs much. We raised our concerns with our local GP, who dismissed our fears on many occasions stating that all kids develop differently. However, when Liam was 4 months old, he still had bad head control and was unable to lift his head off the floor when placed on his tummy. So, we eventually got him referred to a pediatrician. Continue reading Liam’s Story


CMD Perspectives: A Journal

Jun 14, 2012: Management of a Ventilator Dependent Child – A Caregiver’s Perspective

By Ann Schrooten

PART II – The Personal Perspective

The Role and Challenges of the Caregiver

Caring for a child who is ventilator dependent requires 24/7 vigilance and involves a level of skill and knowledge that exceeds the typical parent’s experience. More…

Read All CMD Perspectives Articles


News and Events

LMNA (L-CMD) Fundraing Campaign to Support Ongoing Research

Cure CMD has supported research for a number of projects – to date funding over $1.5M in research grants. Currently, Cure CMD is funding two of the world’s leading scientists in LMNA research: Drs. Gisele Bonne and Antoine Muchir.

The Dague Family has established a fundraising campaign to help ensure this valuable research continues to be funded. Please click here to visit and support their Crowdrise fundraiser.

For more information on LMNA (L-CMD), please visit the following links:

http://curecmd.org/types-of-cmd
http://curecmd.org/types-of-cmd/cmd-description#lamin-ac

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 generation sequencing, has greatly improved the ability to simultaneously analyze multiple genetic loci. The congenital myopathies (CM) comprise a heterogeneous group of heritable muscle disorders. While muscle pathology provides a “muscle biopsy” driven classification, clinical heterogeneity within this classification and the increasing number of implicated genes underscore the need for genetic confirmation. Furthermore, preclinical research has identified gene specific targeted treatments driving a need to prepare genetically confirmed cohorts for future clinical trials. Click here to read the entire article.

Abbey & Izzie Etsy Shop Donates 10% of March Proceeds to Cure CMD

10% of the proceeds from the Abbey & Izzie Etsy shop will go to Cure CMD during the month of March! They make handmade party favors. Click here to shop!

Prothelia and the University of Nevada Enter Into Exclusive Strategic Agreements with Alexion for MDC1A

Experimental Protein Replacement Therapy for Congenital Muscular Dystrophy Type 1A (MDC1A) MILFORD, Mass. and RENO, Nev., Feb. 13, 2014 /PRNewswire/ — Prothelia Incorporated (Prothelia) and University of Nevada, Reno announce that they have entered into strategic agreements with Alexion for the development of Laminin-111, a patented experimental protein replacement therapy for merosin-deficient congenital muscular dystrophy (MDC1A), a life-threatening, ultra-rare disease caused by a genetic deficiency of the Laminin-211 protein. The three parties have entered into a binding agreement wherein Alexion has an exclusive option to acquire privately-held Prothelia and license Laminin-111 directly from the University of Nevada, Reno upon the achievement of specified research and development milestones. In addition, the University of Nevada, Reno and Alexion have entered into a sponsored research agreement to accelerate further research on the investigational therapy conditioned on the outcome of certain development research to be performed by Alexion.  Click here to read/download the full article.

News & Events Archive


Current Trials and Studies

Nov 15, 2013: Collagen VI Hyperinsufflation Study

This research study includes children ages 5 to 20 years old with Collagen Type 6 Congenital Muscular Dystrophy. The goal of this study is to measure the effect of breathing exercise to stretch the chest in slowing the loss of breathing function. The breathing stretches are done with a machine called Cough Assist®. Click here for more information.

Nov 14, 2013: Clinical Trial Readiness for the Dystroglycanopathies

The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials. Click here for more information.

Trials and Studies Archive


Cure CMD Research News

Apr 1, 2014: 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 generation sequencing, has greatly improved the ability to simultaneously analyze multiple genetic loci. The congenital myopathies (CM) comprise a heterogeneous group of heritable muscle disorders. While muscle pathology provides a “muscle biopsy” driven classification, clinical heterogeneity within this classification and the increasing number of implicated genes underscore the need for genetic confirmation. Furthermore, preclinical research has identified gene specific targeted treatments driving a need to prepare genetically confirmed cohorts for future clinical trials. Click here to read the entire article.

Research News Archive


Medical Headlines from Other Websites

Apr 16, 2014: Muscle regeneration in early stages of Duchenne muscular dystrophy

A team of scientists led by Pier Lorenzo Puri, M.D., associate professor at Sanford-Burnham Medical Research Institute (Sanford-Burnham), in collaboration with Fondazione Santa Lucia in Rome, Italy...

Apr 3, 2014: A better way to grow motor neurons from stem cells

Researchers report they can generate human motor neurons from stem cells much more quickly and efficiently than previous methods allowed.

Medical Headlines Archive


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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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