• Million Dollar Bike Ride

    Team Cure CMD will participate in the Million Dollar Bike Ride in Philadelphia, PA. Click here for more information if you are interested in supporting or participating in this event!

  • 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!

  • Team Cure CMD for Klara and Maddie Half Marathon-RYR1 Fundraiser

    Team Cure CMD will run/walk the Wild Half and 8k Marathon in Wildwood, NJ. Click here for more information if you are interested in supporting or participating in this event!

  • Earn Donations for Cure CMD Through Survey Monkey

    Cure CMD is partnering with SurveyMonkey Contribute! Take opinion surveys on SurveyMonkey Contribute, and they will donate $0.50 for every survey you answer. Click here to sign up:
    https://contribute.surveymonkey.com/charity/cure-cmd 

  • Stay Strong T-Shirts to Benefit Cure CMD

    New Stay Strong shirts launched on Muscle Club Apparel’s website today, 100% of the proceeds go to Cure CMD! Get yours today!

  • Amazon Purchases Can Benefit Cure CMD!

    Shop while benefiting Cure CMD at no extra cost to you! Amazon’s new program, Amazon Smile, will contribute 0.5% of the proceeds of every purchase to Cure CMD! You just need to select Cure CMD as the charity of choice. Let the holiday shopping begin: smile.amazon.com Once you’ve signed up, be sure to use smile.amazon.com to shop at Amazon from now on to make sure your purchases count toward the charitable giving.

  • Bows for Boo Boo Cure CMD Fundraiser

    Abbey is making and selling bows for her sister Elizabeth for a cure and has raised $440.00 so far! The bows are $5 each, free shipping. For more information, click here visit her Facebook page Paypal is accepted at yarn.monkey@gmail.com.

  • Have you registered?

    Please help us as we expand our registry capabilities by visiting and updating your CMDIR profile.

    Haven’t registered yet? We need you! Visit www.cmdir.org today and register to join us we move our community forward in research, advocacy, and clinical trials.

   

Alex’s story

img_0432-2My name is Sarah. My husband Tom and I welcomed Alex in October of 2006, so he’s 2 1/2 now. He also gets tons of love from his older brother Jack who is 9 1/2 and his older sister Katie who is 6. I decided to post here because every time I find any information about dystroglycanopathy, it doesn’t seem to fit Alex. Maybe others are out there who are feeling the same way. If so, I hope this will help. Continue reading Alex’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


Press Releases

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.

Earn Donations for Cure CMD Through Survey Monkey

Cure CMD is partnering with SurveyMonkey Contribute! Take opinion surveys on SurveyMonkey Contribute, and they will donate $0.50 for every survey you answer. Click here to sign up:
https://contribute.surveymonkey.com/charity/cure-cmd 

Press Releases 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 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.

Apr 2, 2014: New role discovered for enzyme could have implications for cancer and neurologic disease

Research from Rutgers Cancer Institute of New Jersey shows that a new function discovered for a long-studied enzyme could have implications for the diagnosis and treatment of some cancers and...

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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