TY  - JOUR
A1  - Walter, Maggie C.
A1  - Reilich, Peter
A1  - Thiele, Simone
A1  - Schessl, Joachim
A1  - Schreiber, Herbert
A1  - Reiners, Karlheinz
A1  - Kress, Wolfram
A1  - Müller-Reible, Clemens
A1  - Vorgerd, Matthias
A1  - Urban, Peter
A1  - Schrank, Bertold
A1  - Deschauer, Marcus
A1  - Schlotter-Weigel, Beate
A1  - Kohnen, Ralf
A1  - Lochmüller, Hans
T1  - Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
JF  - Orphanet Journal of Rare Diseases
N2  - Background: Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). 
Methods: We assessed the one-year-natural course of dysferlinopathy, and the safety and efficacy of deflazacort treatment in a double-blind, placebo-controlled cross-over trial. After one year of natural course without intervention, 25 patients with genetically defined dysferlinopathy were randomized to receive deflazacort and placebo for six months each (1 mg/kg/day in month one, 1 mg/kg every 2nd day during months two to six) in one of two treatment sequences. Results: During one year of natural course, muscle strength declined about 2% as measured by CIDD (Clinical Investigation of Duchenne Dystrophy) score, and 76 Newton as measured by hand-held dynamometry. Deflazacort did not improve muscle strength. In contrast, there is a trend of worsening muscle strength under deflazacort treatment, which recovers after discontinuation of the study drug. During deflazacort treatment, patients showed a broad spectrum of steroid side effects. 
Conclusion: Deflazacort is not an effective therapy for dysferlinopathies, and off-label use is not warranted. This is an important finding, since steroid treatment should not be administered in patients with dysferlinopathy, who may be often misdiagnosed as polymyositis.
KW  - Deflazacort
KW  - muscle strength
KW  - gridle muscular-dystrophy
KW  - Duchenne dystrphy
KW  - Miyoshi myopathy
KW  - mutation
KW  - prednisone
KW  - gene
KW  - 2B
KW  - children
KW  - design
KW  - steroids
KW  - therapy
KW  - dysferlinopathy
KW  - Limb girdle muscular dystrophy (LGMD)
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-125663
SN  - 1750-1172
VL  - 8
IS  - 26
ER  -