Philip Ryan’s story

Philip Ryan

The journey with Philip Ryan has been extraordinary. I have trouble just starting to write. I have not kept a journal but do have all of his records. He is an amazing boy. We love him so very much. He came as a little teacher for everyone who is willing to receive what he has to offer. We have had many terrific losses. Continue reading Philip Ryan’s story


CMD Perspectives: A Journal

Jun 9, 2014: Our journey with Walker Warburg Syndrome: Life, Death and Our Mission to Help Find a Cure

By Brendan Sullivan

As a military veteran who has traveled the world, I experienced more in a 6 year period than many people will ever get to experience.   I’ve been to countries that the majority of people will never be able to travel to.  But I’ve also experienced, twice, something which no one ever wants to experience:  I’ve buried two children in the past 5 years due to a rare form of Congenital Muscular Dystrophy known as Walker Warburg Syndrome (WWS). 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

Jul 23, 2014: Two New CMDIR Driven CMD Studies

We would like to announce 2 new CMD studies led by the CMDIR (Congenital Muscle Disease International Registry):

  • LMNA History Study will define how weight, ability to walk, breathing and heart function changes over time in infants, children and teens with LMNA-CMD.  This study will use existing CMDIR data, clinic records and hospital reports.  Analyzing data will help provide a better understanding of how LMNA affects a group of infants, children and teens. To participate in the study requires registration in the CMDIR (www.cmdir.org), completion of the CMDIR Intake Survey and Medical Release and genetic confirmation of LMNA-CMD . For more information on the study, contact, Linda Tarbox, CMDIR Volunteer Research Associate atlinda.tarbox@cmdir.org
  • CMD Sleep Study will analyze sleep study reports in children and adults with congenital muscle disease. The goal of this study is to determine the frequency of abnormal sleep study reports and the relationship between sleep study results, forced vital capacity, ambulatory status and need for current ventilatory support. This study will use existing CMDIR data, clinic records and hospital reports.  For more information on this study, contact Rachel Alvarez, CMDIR Associate Director at rachel.alvarez@cmdir.org
We would also like to provide you with updates on 2 ongoing CMD studies led by the CMDIR:
  • MTM Event Study has enrolled 31 participants. 12 participants have completed monthly telephone interviews for one year to assess the rate of change in several parameters including breathing, medications, medical care and hospital admissions.  To participate in the study requires registration in the CMDIR and genetic and/or muscle biopsy confirmation of myotubular myopathy. For more information on this study, contact Sabine de Chastonay, CMDIR Volunteer Research Associate at sabine.dechastonay@cmdir.org
  • CMD Breathe Study will analyze current respiratory issues and care provided to registrants in the CMDIR, including a separate survey of US and Canadian pediatric pulmonologists. This study has closed to participation and the CMDIR would like to thank all families that participated in this study. Data analysis is ongoing- and results will be summarized and provided to the community.
The CMDIR or Congenital Muscle Disease International Registry is an international registry focused on congenital myopathy, congenital muscular dystrophy and congenital myasthenic syndrome. The CMDIR was established to support clinical trials and provide data to evaluate current care and inform best practices.  For more questions on the CMDIR, please contact Rachel Alvarez, CMDIR Associate Director.

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.

Trials and Studies Archive


Cure CMD Research News

May 6, 2014: Standard Operating Protocols to Evaluate CMD Mouse Models

Cure CMD has been working with the scientific community to develop standard operating protocols to evaluate CMD mouse models.  This work has been co-funded by the AFM and led by Dr. Raffaella Willmann. Developing a standard way to evaluate mouse models, assists Cure CMD in evaluating the size of the effect of any intervention and allowing data comparisons between labs.

www.curecmd.org/scientists/sop

Research News Archive


Medical Headlines from Other Websites

Oct 20, 2014: Motor neurone disease: new technologies boost quality of life

An innovative telehealth system and web resource developed with the help of patients and carers could revolutionise access to care and support for people with motor neurone disease (MND).

Oct 15, 2014: Guideline offers direction in genetic testing for certain types of muscular dystrophy

A new guideline from the American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) recommends guidance on how doctors should evaluate...

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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