Category Archives: Research News

The Consensus Statement on Standard of Care for Congenital Muscular Dystrophies was published in the Journal of Child Neurology on November 15, 2010.

A recent article emphasizes the need to focus on breathing care prior to and after scoliosis surgery.  In the article, 10 patients with CMD undergoing scoliosis surgery are taught simple breathing exercises prior to surgery using an inspiratory muscle trainer (IMT) with an increase in breathing capacity, measured by % FVC (forced vital capacity).

Preliminary studies demonstrate that understanding which genes to turn on, one can potentially take a skin cell and create a different cell type, in this case blood cell, without going through the step of first generating iPScells (induced pluripotent stem cells).  Understanding how this approach could apply to taking skin to muscle and the effect [...]

A recent Annals of Neurology article reviewed data in France from 49 patients with a Collagen VI Myopathy, extending from UCMD to Bethlem myopathy.  The data reviewed allowed the group led by Valerie Allamand to come up with a distinct classification system where patients were classified into 3 categories based upon their genetic and clinical [...]

Plans for a clinical trial in SEPN 1 related myopathy

This study tracked 11 patients with SEPN1 myopathy, formerly called Rigid Spine Muscualr Dystrophy. The patients were followed for an average of 7. 2 years.  All 11 patients had breathing issues detected by a drop in vital capacity (VC or FVC). Patients were able to walk an average of at least 1000 meters at an [...]

A recent article in the New England Journal of Medicine reviews current climate and barriers to change at the FDA with applicability to developing rare disease therapeutics. Click here

Liestal, Switzerland, September 29, 2010 – Santhera Pharmaceuticals (SIX: SANN) informed today about recent achievements and next steps in the clinical development program for omigapil as potential first treatment of Congenital Muscular Dystrophy (CMD).

Bio-NMD is a project launched in Europe to identify biomarkers in collagen VI, Duchenne and Becker muscular dystrophy.  To read more: click here

Interesting and sobering piece by Emily Yoffe looking at where the “promised” therapies have gone wrong and the pace of progress Click here to read