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.

• education, housing, transportation, employment support, health and wellness, assistive technology, personal care attendant support, miscellaneous expenses, and other approved expenses.

Please contact your members of Congress, and let him/her know that you support H.R. 3423/S. 1872 because it assists individuals with disabilities in achieving desired levels of independence and success.
Click here to access MDA tool to contact Congress

http://curecmd.org/archives/4028#more-4028

http://www.myotubulartrust.com/talk-resources-scoliosis-shaun.htm
http://www.myotubulartrust.com/talk-resources-scoliosis-sukhi.htm

A pK or pharmacokinetic study is the first step towards an eventual clinical efficacy trial.  The planned pK study will test escalating doses of omigapil over a 3 month time period in a small number of patients. There are 2 proposed study sites, one in the USA at the Neuromuscular and Neurogenetics Disorders of Childhood Section (NNDCS/NINDS) and the other in the United Kingdom at Great Ormond Street Hospital (UCL).

The purpose of a pK study is to measure drug levels and determine the proper dosage of drug for a subsequent clinical efficacy trial and determine if there are any short-term side effects from drug administration in CMD patients.  The drug will be administered in monthly escalating doses for a period of 3 months and the pharmacokinetic profile of omigapil determined by serial blood work drawn. The pK study will be conducted in both LAMA2 related (Merosin) and Col 6 related CMD.  Inclusion and exclusion criteria and CMD subtype to proceed to clinical trial will be determined by expert committee.

A clinical trial is an experiment. We do not know if omipagil will have a measurable effect in CMD on how a person feels and functions. A trial needs to prove efficacy and safety.  As a community, Cure CMD would like to encourage participation in the pK study, funding support to make pK study and clinical trial a reality and emphasize that we are all winners in this situation.

What does getting omipagil to clinical trial do for each of us?

• It makes the next CMD clinical trial a lower hurdle to jump over due to prior trial experience, a network of participating sites and a population that is motivated to proceed to clinical trials.
• It helps drive registration in the CMD International Registry (CMDIR), enabling us to gain momentum in discussions with pharma to invest in the CMDs for future clinical trials
• It helps standardize CMD medical care at participating centers with a ripple effect to other centers, improving quality of life and longevity.

We need your help.  We estimate a need to raise 200,000 Euros (275,000 USD) to support the UK site for the pK study alone and have set an additional fundraising target of  550,000 Euros (750,000 USD) from October 2011 through June 2013 to support the omigapil clinical trial. To donate for omigapil pK study and clinical efficacy trial, click on Cure CMD donate button.
We will provide quarterly updates on funds raised. Cure CMD will continue to fund annual research grants with designated funding to invest in the CMD drug pipeline. Funds donated go directly to CMD research.

Cure CMD would like to thank Endostem, a European Union funded collaborative to support drug manufacture by Santhera Pharmaceuticals. This critical support drives momentum towards the planned pK study.  Additional thanks to AFM who funded the juvenile toxicity studies conducted previously by Santhera Pharmaceuticals to ensure omigapil can be used in a clinical trial in children, to Dr. Markus Ruegg whose lab published evidence for omigapil as an anti-apoptotic in CMD and to Dr. Paolo Bonaldo whose lab has worked on clarifying anti-apoptotic mechanisms in Collagen 6 related Myopathy.  Santhera Pharmaceuticals has participated in several CMD scientific and medical meetings, met with the FDA and provided key insight and support into CMD outcome measure selection together with the international CMD medical community.  Finally, we would like to thank the 2 teams at GOSH and NNDCS, led by Prof. Muntoni and Dr. Bonnemann for the hard work that lies ahead.

Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K,Sasaki M, Nonaka I, Nishino I. Inflammatory changes in infantile-onset LMNA associated myopathy. Neuromuscul Disord. 2011 May 30. [Epub ahead of print]