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Newsletter Archive
April 2012 Global FKRP Patient Registry Newsletter
Click here to view the April 2012 Global FKRP Patient Registry Newsletter
April 2012 Cure CMD Newsletter
Click here to view the April 2012 Newsletter
March 2012 Cure CMD Newsletter
Click here to view the March 2012 Newsletter
BIO-NMD Patient Newsletters – Issue 3
Click here to view the March, 2012 issue
February 2012 Cure CMD Newsletter
Click here to view the February 2012 Newsletter
January 2012 Congenital Muscle Disorder Newsletter: Scoliosis
January 2012 Cure CMD Newsletter
Click here to view the January 2012 Newsletter
Winter 2011: CureCMD Newsletter
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Summer 2011: Cure CMD Newsletter
Click here to view the Summer 2011 Newsletter
Spring 2011: Cure CMD Newsletter
Click here to view the Spring 2011 Newsletter
Fall 2010 Edition
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Summer 2010 Edition
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Spring 2010 Edition
Click here to view the Spring 2010 Newsletter
Winter 2010 Edition
The Winter 2010 newsletter is available for download here.
Fall 2009 Edition
The Fall 2009 newsletter is available for download here.
Summer 2009 Edition
The Summer 2009 newsletter is available for download here.
Winter 2008 Edition
Our first newsletter is available for download here.
Press Release Archive
Las Cruces Boy’s Long Wait for Service Dog Nears End
Click below to read the two articles about John-Dylan Cully:
Boy with Muscular Dystrophy to Get Free Service Dog
Las Cruces Boy’s Long Wait for Service Dog Nears End
Battling Muscle Loss
Can a professor’s stem cell research help regenerate muscle lost to aging and disease?
Click here to read the article in Coloradoan Magazine
Cure CMD Advocacy Advanced in U.S. Congress
Click here to read letter from Congressman Charles Rangel
Driven Average Joe is Cole’s Super-Dad
Click here to read the article about Cole and what his dad has done to get him more mobile.
Sidewalks Steps & Labyrinths
Kelly Moore discusses issues of wheelchair access in Houston, Texas
Cure CMD funds over $250,000 in CMD research in 2010
Cure CMD funds $280,000 in research in 2010, bringing totals spent on CMD research in the last two years to over $1/2 million. Two years funding in partnership with SAM. Per Cure CMD’s Chairman, Anne Rutkowski, “Funding at this level has brought an increased focus to CMD science and drives the identification of new treatment strategies. We would like to express our thanks to the expanding CMD community who make these grants possible and the Cure CMD SMAB who provide expert guidance and review”.
2010 Cure CMD Translational Grant Awards
Olga Igoucheva, PhD, Jefferson University ($50,000/yr x 2 years)
Stem Cell therapy for collagen VI congenital muscular dystrophy
Collagen VI-related muscle disorders have recently emerged as one of the most common types of congenital muscular dystrophies (CMD). Bethlem myopathy and Ullrich congenital muscular dystrophy represent the mild and severe end of a clinical continuum associated with dysfunction of collagen type VI, a connective tissue protein present in almost all tissues. Patients manifest muscle weakness and connective tissue abnormalities, including joint contractures and distal hyperlaxity. Severely affected patients are wheelchair-bound and suffer from early respiratory failure. Currently, there is no specific treatment for this disabling and life-threatening disease.
Stem cells isolated from adult human tissues are able to expand in number and reprogram to become muscle cells and various connective tissue cell types in a laboratory setting. These cells lack significant immunogenicity, and their safety as donor cells for transplantation without immunosuppressive drugs has been demonstrated in a large number of clinical trials. Moreover, recent studies have indicated that the adult stem cell treatment results in decreased inflammation, fibrosis and cell death, mediated by growth factors secreted from them.
Our preliminary studies have shown that the adult stem cells produce and secrete collagen VI.Together, these findings suggest that adult stem cell therapy will be an effective treatment strategy for collagen VI CMD. In this application, we propose to test the hypothesis that adult stem cells can serve as donor cells for therapy in a mouse model of collagen VI CMD. Adult stem cells isolated from mouse and human tissues will be delivered to mice deficient in collagen VI by intramuscular and systemic injections. The efficacy of the cellular therapy will be evaluated at different time points after cell transplantation. The experiments proposed will serve as pre-clinical studies, providing the basis for future clinical testing in collagen VI CMD patients.
Sweta Girgenrath, PhD, Boston University ($50,000)
To evaluate the efficacy of RAP-031 Treatment of Dystrophic, Inflammatory and Regenerative Deficiencies in Merosin Deficient Congenital Muscular Dystrophy Animal Model (dyw)
Merosin Deficient CMD (MDC1A) is one of the two most common forms of congenital muscular dystrophy that is characterized by extensive muscle wasting. RAP-031 is a compound, produced by Acceleron that is known to increase muscle mass. It is being developed for the treatment of patients with neuromuscular diseases to restore muscle mass and function. We propose to test the efficacy of a therapeutic protein compound, RAP-031 in the mouse model for MDC1A. We will specifically test if this compound results in increasing life span and improve muscle growth.
Valerie Allamand, PhD, Institute of Myology, France ($50,000/year x 2 years)
PTC suppression in a novel model of ColVI-myopathies
Collagen VI-myopathies are caused by a deficiency of collagen type VI (ColVI), a protein that contributes to the architectural structure of muscle and also to its maintenance and survival. ColVI myopathies constitute a large spectrum of clinical presentations ranging from severe,early-onset phenotypes, to intermediate and later-onset, milder phenotypes. The extremities of this spectrum were previously described as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy.
Tremendous progress has been achieved in the last decade to provide accurate molecular diagnosis to the patients and their families, and to understand the mechanisms leading to these disorders. Based on our experience in the diagnosis of ColVI-myopathies, we have chosen to focus our efforts on therapies aiming to restore the expression of the deficient ColVI molecule.
We have developed a novel mouse model carrying a mutation in the Col6a2 gene, based on the mutation identified in a patient with a severe phenotype. The mutation introduced leads to a premature termination codon (PTC) which triggers the specific degradation of the Col6a2 transcript and the absence of ColVI in the skeletal muscle from these animals,leading to a myopathic phenotype. The overall objective of this project is to evaluate the therapeutic potential of 2 pharmacological approaches in this animal model: 1) inhibiting transcript degradation, induced by a specific cellular surveillance machinery, and 2)forcing the translation of the PTC introduced in the Col6a2 gene. These experiments will provide pre-clinical data regarding the efficiency of pharmacological therapies for ColVI myopathies due to nonsense mutations, estimated to about 11% of mutations identified so far.
Susan Brown, PhD, Royal Veterinary College, UK ($30,000/ year x 2 years)
Validation of an animal model for therapeutic testing in the dystroglycanopathies
Many muscular dystrophies are due to a defect in proteins that link the inside of the muscle fibre with the extracellular matrix. The ‘dystroglycanopathies’ are secondary to a problem in the way alpha-dystroglycan is decorated with sugars. These sugars determine how alpha-dystroglycan interacts with proteins in the extracellular space and in doing so contribute to the integrity of the basement membranes of muscle and in some patients, the eye and brain as well.
We have recently generated a mouse with a selective deficiency of Fukutin Related Protein (FKRP) in muscle. This mouse shows a reduction in muscle alpha dystroglycan glycosylation as do patients with FKRP mutations. If we are to develop effective forms of therapy for this group of disorders we now need to define the disease process in this mouse so that we have clearly defined parameters on which to judge whether a treatment is likely to be effective or not. In the present proposal we aim to evaluate disease progression in this mouse and use it to determine if the up-regulation of LARGE is effective in preventing or arresting the characteristic pattern of muscle fibre degeneration and improving mouse function.
2009 Cure CMD Translational Grant Awards: Year Two
Denis Guttridge, Ohio State University Medical Center, $50,000 Year Two
Goal: Study the role of NFKB signaling in Merosin Deficient CMD and treatment with Nemo Binding Peptide
Sweta Girgenrath, Boston University, $50,000 Year Two
Goal: Study the role of combinatorial therapy to target Merosin Deficient CMD
CMD Care Guidelines, a Reality!
Cure CMD would like to thank Drs. Ching Wang and Thomas Sejersen who led the year and half effort to establish CMD Care Guidelines. Cure CMD thanks AFM, TREAT-NMD and Telethon Italy who co-funded the November meeting and the international group of clinicians, allied health professionals and families who provided feedback and expertise.
For news release, click here
Charity announces further funding to help find a cure for CMD
SAM Supports Prothelia in Developing a Treatment for Muscular Dystrophy (click here)
Upper Black Eddy’s Van Hook Prepares for Half Marathon
Taking His Aim at CMD
Check out the Bucks County Intelligencer article about Alex and the upcoming Half Marathon.
View PDF version here
Teen with CMD in the news
Alex Van Hook is an active teenager- who happens to have CMD.
S.A.M Announces Successful CMD Fundraising Campaign
Struggle Against Muscular Dystrophy (S.A.M.) is a Northern Irish nonprofit started by 2 parents whose son has CMD. S.A.M’s mission is to find a treatment and cure for merosin deficient CMD and bring awareness to the CMDs. Cure CMD and S.A.M. teamed up to move CMD therapies forward- the 2009 Cure CMD grant cycle awarded over $200,000 towards CMD science.
SAM Announces Drug Research Grant
Pedal 4 Pierce
By Natalie Cavallaro
Canberra Weekly, Australia
11/3/09
Inspired by a conversation with a fellow student, 10 year old student, Christopher Jefferys came home from a school sports day, determined to do something to help those less fortunate. Click here to read the article.
Minnesota executive and father tees up support for kids with CMD, September 9, 2009
Forest Lake resident Rich Cloud is on a mission.
Four years ago, he and his wife, Ann, discovered that their one-year-old daughter, Ashley, had Congenital Muscular Dystrophy (CMD).
While traveling around the country for IBM, his former employer, he made visits at the same time with various scientists and organizations affiliated with the congenital muscular dystrophies, a group of diseases that cause muscle weakness at birth and progress over time so that muscles break down faster than they can repair or grow. (more…)
International Database for Congenital Muscular Dystrophy Patients Offers Hope for Medical Trials, August 31, 2009
Emory University School of Medicine will coordinate data collection and provide genetic counseling and referral services
(HealthNewsDigest.com) – For thousands of American children suffering from congenital muscular dystrophy, medical research trials are often beyond reach. Congenital muscular dystrophy (CMD) represents several rare forms of muscular dystrophy and often children are misdiagnosed for years due to a lack of familiarity of CMDs by physicians. (more…)
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