| Duchenne Parent Project Europe |
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Guidelines for the Optimal Care of Boys with Duchenne Muscular Dystrophy |
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Consensus Report based on the Proceedings of an Expert Meeting in Rotterdam, 7 and 8 November 1997 |
| Conclusion and Outlook |
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Duchenne muscular dystrophy has always been with mankind and also with all animals which have muscles. It got its name in the last century after the French physician Duchenne de Boulogne
described it in 1868. From the mode of inheritance, it was known at the beginning of this century that a defect on the X-chromosome was responsible for the disease, but only in 1986 was the
gene itself, the dystrophin gene, identified and shortly afterwards the protein dystrophin, which is missing in Duchenne boys, characterized. The fast pace of genetic research gave rise to an
optimism that a gene therapeutic approach would soon be able to replace the gene and the protein and thus cure the disease.
This optimism was premature. The first clinical studies in 1991 with a gene replacement method, myoblast transfer, showed that a technique which looks promising in laboratory animals like mice was ineffective in Duchenne boys. Now, more than a decade after the detection of the gene, there is still no therapy, neither for Duchenne dystrophy nor for any other hereditary disease like cystic fibrosis. A whole series of gene transporters, viruses or other vectors, are being studied in dystrophic mice and dogs. But before they can be injected into the muscles of children, it has to be shown that they are safe and effective first in mice, then in dogs and finally in Duchenne children, i.e., they must cause the re-appearance of dystrophin at the inner face of the muscle membrane and improve the muscle function considerably. The next step would be the development of a method that would allow the application into the blood stream so that all muscles, also those of the heart and the lung, could be reached. All these studies will need time-consuming experiments with large groups of Duchenne boys. And last but not least, the technical and economic problems of large-scale manufacture of the therapeutic agent must be solved. All these requirements must be considered and evaluated before it is possible to make any prediction of how long it will take until a safe and effective therapy becomes available for children with Duchenne muscular dystrophy. The answer to this question is the most important one for the parents and their sons. It will probably take several years, more like ten years than five, until Duchenne muscular dystrophy is conquered. This is not what has been hoped for, that is the negative side of this difficult problem, the positive is that there are more and more capable and dedicated researchers in laboratories all over the world working on a cure: therefore, it is certain that an effective therapy will be there, sooner or later. Text prepared by Dr. Günter Scheuerbrandt Im Talgrund 2, D-79874 Breitnau, Germany with the help of the following experts: Egbert Bakker, Ph.D. Professor dr. Gert-Jan B. van Ommen Department of Human Genetics Leiden University Wassenaarseweg 72 NL-2333 AL LEIDEN Human geneticists and molecular biologists Mary Beth Deering 2305 South Greenwood Drive USA-JOHNSON CITY, TN 37604 Physiotherapist Professor Denis Duboc Service de cardiologie Hôpital Cochin 27 rue de faubourg St. Jacques F-75014 PARIS Cardiologist Professor Victor Dubowitz, M.D., Ph.D., F.R.C.P., D.CH. Francesco Muntoni, M.D. Department of Paediatrics and Neonatal Medicine Imperial College School of Medicine University of London Hammersmith Hospital Du Cane Road GB-LONDON W12 ONN Child neurologists Professor Dr. med. Raimund Forst Orthopädische Klinik Technische Hochschule Aachen Pauwelsstraße 30 D-52057 AACHEN Orthopaedic surgeon Dott. Claudia Granata Dott. Luciano Merlini Istituto Ortopedico Rizzoli Via Pupilli 1 I-40136 BOLOGNA Neurologists Dipl.-päd. Inge Heußner-Enderle Deutsche Gesellschaft für Muskelkranke Im Moos 4 D-79112 FREIBURG Family counselor Professor Eric P. Hoffman, Ph.D. Judith C. T. van Deutekom, Ph.D. Department of Molecular Genetics and Biochemistry University of Pittsburgh School of Medicine Biomedical Science Tower, Room W1211 USA-PITTSBURGH, PA 15261 Molecular biologists Dr. med. Stefan Kochanek Zentrum für Molekularbiologische Medizin Universität zu Köln Kerpener Straße 34 D-50931 KÖLN Molecular biologist Dr. Patrick Leger 5, rue de la chèvre F-69370 ST. DIDIER au mont d'Or Professor Dr. med. Bernd Reitter Kinderklinik der Universität Mainz Langenbeckstraße 1 D-55101 MAINZ Child neurologist Birgit F. Steffensen Institut for Muskelsvind Muskelsvindfonden Kongsvang Allé 23 DK-8000 ÅRHUS C Physiotherapist J. Andoni Urtizberea, M.D. Association Française contre les Myopathies 1, rue de l'Internationale F-91000 EVRY Pediatrician and Physiatrist Professor Dr. med. Gerhard Wolff Institut für Humangenetik und Anthropologie Universität Freiburg/Br. Breisacher Straße 33 D-79106 FREIBURG Human geneticist and Psychotherapist Financial support for the meeting and these guidelines is gratefully acknowledged to VSB Fonds, Welzorg; Stichting Patientenfonds, the Netherlands and Rotary Club Aschaffenburg-Schönbusch, Germany. |
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