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Acta Myol. 2009 October; 28(2): 61.
PMCID: PMC2858954

The story of the progress reports on research into gene therapies for Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) has long held a special position among hereditary muscle diseases: its X-chromosomal recessive mode of transmission, its relatively high incidence, the early appearance of muscular weakness, the fast progression of muscular dystrophy, the severity of its course already in the second decade of life, the absence of almost every form of effective therapy – all these characteristics have attracted special attention to this scourge of humanity. This is reflected in the fact that in many countries the self-help associations caring for all neuromuscular disorders are just called muscular dystrophy associations. The name of the honourable French physician Guillaume Duchenne is associated with one of the most fatal diseases of the world.

The unhappy combination of these calamitous elements, however, has also meant that any researcher who has contributed to the progress in understanding of the pathology of the disease has been highly recognised by the scientific community and the affected families alike. Since 1986, when the team of Louis Kunkel discovered the “Duchenne gene”, and more so since 1987, when Eric Hoffman discovered its gene product “dystrophin”, everybody has been awaiting the next step, i.e. a sustainable therapy for DMD. But more than twenty years have passed and the leading researchers are still unable to predict the date when at least the largest group of patients whose mutation could be repaired by skipping one particular exon, i.e. exon 51 of the extremely large dystrophin gene, can hope for medication that halts the progression of their dystrophy. For a minority of patients (about 10%, as pointed out in the following Review) the breakthrough might lie in reach, but the remaining 90% are most probably doomed to a long wait. How long – nobody dares to say.

In this not so pleasant situation there is one man who keeps instilling hope in the affected families: Dr Günter Scheuerbrandt. He does not bring false hopes. He just conveys matters of fact, the solid cautious opinions of the protagonists in research. And even though at present they do not promise therapy in the near future, they clearly strengthen the will of the affected families to stay the course, to keep collecting money for research, and thus encourage even frustrated researchers who at times might themselves despair at the lack of success.

The Neapolitan Gaetano Conte Academy for Research into Cross-Striated Muscle has particularly cared for Duchenne muscular dystrophy right from its founding. Every two years its board elects from numerous nominations the candidates for a prize that is named after Dr Gaetano Conte, the Neapolitan physician who really was the first in the world to describe what is now called Duchenne muscular dystrophy. The prize is awarded for outstanding achievements in either of three categories: basic research, clinical research and social activities in the field of neuromuscular disorders. In 2009 the prizes were awarded at the biennial general assembly of the Mediterranean Society of Myology on the Isle of Cyprus, and Dr Scheuerbrandt received there the prize for social activities. At this occasion he gave an unscripted presentation with 55 animated PowerPoint slides on “How to explain exon-51 skipping to Duchenne families”. As it would have been difficult to publish the slides, the Editors decided to ask him to write up the broader story of how his progress reports developed. Here it is.

Articles from Acta Myologica are provided here courtesy of Pacini Editore