Author Archives: anne_rutkowski

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 [...]

Dr. Carsten Bonnemann and Dr. Anne Rutkowski, Cure CMD Chairman, traveled to Beijing, China to evaluate 17 families with CMD together with the staff from Peking University First Hospital. The clinic and conference was led by pediatric neurologist, Dr. Hui Xiong.  It was a wonderful opportunity to meet families with CMD in China and recognize [...]

On June 3-5th, 31 families participated in the CMD Comparative Outcome Measure Study in Bethesda, Maryland. This 5 year study, funded by NIH and Cure CMD is in its 2nd year.  The goal of the study is to define the natural history of collagen 6 and LAMA2 related (merosin) deficient CMD and identify endpoints for [...]

Congratulations to Dr. Jim Collins, MD, PhD at Cincinnati Children’s Hospital Medical Center.  Dr. Collins has received an intramural NIH CCTST translational KL2 award. This award will allow him to enroll additional children with Merosin Deficient CMD and Collagen VI CMD.  Dr. Collins was initially funded by a Cure CMD/SAM Research Grant for a pilot [...]