April 2012 Global FKRP Patient Registry Newsletter
Click here to view the April 2012 Global FKRP Patient Registry Newsletter
Dear Future Physician
Watch Ann Schrooten, CMD mom, deliver a simple and eloquent message to future physicians as part of a medical education program she developed called Touchstones of Compassionate Care
Cure CMD, LGMD2I Fund and TREAT-NMD/Newcastle: Teaming Up to Prepare for LGMD2I Trial
Cure CMD, LGMD2I Fund and Newcastle office are teaming up to prepare for an LGMD2I clinical trial.
First step, harmonizing registries. If FKRP, please register in www.fkrp-registry.org If any other aDG-RD gene involved or unknown, please register in CMDIR, www.cmdir.org
New Year’s Challenge Brings in $25,000 for CMD research
2012 is starting off with a bang- $14,910 raised in response to a $10,000 challenge by Cure CMD’s Chair, Anne Rutkowski, nets $25,000 for research!
Consider setting up a monthly donation through our donation page to help us reach our 2012 goal to raise $500,000!!
Phoenix Team Rolls in $3240 towards CMD research
Phoenix team led by Ann Schrooten, family and friends rolls in over $3,000 for CMD research. A big thanks to all who participated!
Cure CMD Funding Priorities for 2012
Cure CMD 2012 Funding: CMDIR Project Manager, the Myomatrix 2012 Scientific Conference, an LMNA-CMD iPS cell line and CMD Comparative Outcome Measure Study (CMD COM-Year 3).
Cure CMD funds $245,000 in CMD research in 2012!
Cure CMD announces 2012 Grants for research in LMNA-RD (Lamin A/C related dystrophy), LAMA2-RD (Laminin alpha 2 related dystrophy), COL6-RM (Collagen VI related myopathy) and aDG-RD (alpha dystroglycan related dystrophy).
Upcoming CMD Family and Clinician Webinar: April 28, 2012
Save the date! Webinar on Breathing Issues and Respiratory Management to take place on April 28, 2012.
Omigapil pK Study Slated for 2012
Santhera Pharmaceuticals, Cure CMD, UCL/GOSH (Prof. Muntoni), NNDCS/NINDS (Dr. Bonnemann) and Endostem announce decision to proceed with an omigapil pK study in LAMA2 related CMD (Merosin/MDC1A) and Collagen 6 related Myopathy (UCMD, Collagen VI myopathy). For more information, read below
CMD Perspectives: A Journal
Join us as we publish CMD perspectives articles to highlight how we live our lives, and tricks we have learned to get by and make our lives easier. On the heels of the CMD Webinar: Management of Respiratory Issues, our focus for these pieces will illustrate these challenging issues. The authors’ comments include thoughts on topics from advances in breathing technology to necessary medical procedures. To contribute to CMD Perspectives, email erin.mcguirk@curecmd.org
Do you know about BiPAP?
To learn more about BiPAP
Click here to watch Luke Hoban’s video on living with CMD and BiPAP
Click here to watch Luke’s interview of Lucinda Rosso to get the parent perspective
We would like to thank Luke Hoban, Lucinda Rosso, Meera Gandhi and Sarah Dillon for making these videos possible
New to Cure CMD?
This year’s goal is to register the global CMD community.
Take a moment to register on the CMD International Registry (CMDIR), www.cmdir.org
CMDIR in French, German, Spanish, Portuguese and English. Turkish, Chinese and Danish coming soon.
Robert’s story
My name is Robert. I was born in 1967 in Georgia and had no birth complications. I have lived in the Southeast for my entire life. In 2006, I, as well as my older brother, was diagnosed with Autosomal recessive Bethlem Myopathy. My brother and I share many of the same symptoms and while he’s shared his story with CMD already, I wanted to take this opportunity to share my experiences of having and living with Bethlem Myopathy. Continue reading Robert’s story
CMD Perspectives: A Journal
May 17, 2012: Management of a Ventilator Dependent Child – A Caregiver’s Perspective
By Ann Schrooten
PART I – The Technical Perspective
My son, Jack, is thirteen years old and he has an unknown subtype of dystroglycanopathy congenital muscular dystrophy. Jack suffers from severe muscle weakness and respiratory insufficiency and has been ventilator dependent since he was four months old. More…
Read All CMD Perspectives Articles
Current Trials and Studies
Apr 15, 2010: For up to date information on CMD and LGMD clinical studies and trials
Trials and Studies Archive
Cure CMD Research News
Jan 30, 2012: FKRP and CMDIR Registries: Working Together
Dec 27, 2011: Cure CMD funds $245,000 in CMD research in 2012!
Cure CMD announces 2012 Grants for research in LMNA-RD (Lamin A/C related dystrophy), LAMA2-RD (Laminin alpha 2 related dystrophy), COL6-RM (Collagen VI related myopathy) and aDG-RD (alpha dystroglycan related dystrophy).
Dec 27, 2011: Cure CMD teams up with LGMD2iFund to develop antibodies for aDG-RD
The project led by Professor Glenn Morris and Dr. Sue Brown with assistance from Dr. Andrea Brancaccio will use 3 distinct approaches to develop additional antibodies to stain the protein αDG in the muscle membrane. More…
Dec 27, 2011: Cure CMD 2012 Grant Funding
William Cruikshank, PhD (Boston University) received $25 K two year grant award to study breathing issues in the DyW mouse model of LAMA2-CMD (MDC1A, Merosin Def CMD). The 2 main goals of this study are to investigate whether the mouse model suffers from progressive breathing problems and thus models human disease and whether a pharmacologic treatment, NBD (an NKFκB inhibitor) shown to improve the disease in mouse also improves breathing parameters. In addition, the study will evaluate smooth muscle involvement of the airways in the animal model.
James Dowling, MD, PhD (University of Michigan) receives $35K for one year of funding to evaluate 2 stable CMD zebrafish models, the LAMA2-CMD model (caf) and recently created COL6-RM model. Dr. Dowling’s study will evaluate both models thoroughly, creating an open access database to enable sharing of his data in these and other congenital muscle disease zebrafish models (RYR1-RM and MTM) with the global scientific community. Both the caf and COL6 zebrafish model will undergo medium throughput screening using the FDA approved Prestwick drug library to identify classes of drugs that highlight new mechanisms to target and potential therapies. Dr. Dowling just completed published work in the nebulin and ryanodine receptor zebrafish models.
Gisele Bonne, PhD (INSERM, France) receives $40K two year annual award to study a new gene therapy approach called RNA trans-splicing in 2 models of LMNA related dystrophy. Dr. Bonne originally identified the LMNA gene and has created two models: one replicating Emery Dreifuss muscular dystrophy and the other, replicating LMNA-CMD. The study aims to investigate whether this type of gene therapy that targets RNA, not DNA, provides a lasting correction to the 2 mouse models.
CureCMD on Twitter
