Category Archives: Research News

Cure CMD, the LGMD2I Fund and the Newcastle TREAT-NMD office announce a collaboration to promote clinical trial readiness for LGMD2I.  In anticipation of an LGMD2I clinical trial, we are working to align the 2 existing registries, one specific for FKRP and one for each of the other CMD-LGMD alpha dystroglycan related dystrophy (aDG-RD, dystroglycanopathy) genes. [...]

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. 

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 [...]

We’re calling all members of our MDA community to support the Achieving a Better Life Experience (ABLE) Act of 2011, which helps Americans with disabilities save money for the future. On November 15, Representatives Ander Crenshaw, R-Fla., Cathy McMorris Rodgers, R-Wash., and Senator Robert Casey, D-Pa., introduced the ABLE Act (H.R. 3423/S. 1872) in the [...]

Click here to watch Sarah Foye, mother of a child with congenital muscle disease describe why registration matters.

Cure CMD, the Joshua Frase Foundation and the Myotubular Trust have co-organized an international Webinar for families on scoliosis management in congenital muscle disease, including congenital myopathy and congenital muscular dystrophy.  Webinar presentations from Dr. Roye (US Orthopedic surgeon) and Mr. Noordeen (UK Orthopedic surgeon). Moderation by Drs. Rutkowski, Bonnemann and Foley.  To read several [...]

Santhera Pharmaceuticals, Cure CMD, UCL/GOSH (Prof. Muntoni), NNDCS/NINDS (Dr. Bonnemann) and European Union Framework 7 Consortium, 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). A pK or pharmacokinetic study is the first step towards an eventual clinical efficacy trial. [...]

Komaki et al, recently published an article in which they performed genetic testing for a mutation in LMNA, the gene that leads to L-CMD, in patients whose muscle biopsies showed a high degree of inflammation at age 2 years and younger.  Out of 20 patients, they found 11 (55%) had mutations in LMNA consistent with [...]