DMD - Duchenne Muscular Dystrophy
The severe and progressive deterioration of muscle fibers in Duchenne Muscular Dystrophy (DMD) is caused by mutations in the dystrophin protein gene, mostly deletions of one or more exons that disrupt the open reading frame of the transcript and prematurely abort the synthesis of the dystrophin protein. Using Prosensa’s RNA-modulating therapeutics, specific exon skipping can be induced during pre-mRNA splicing by disturbing specific exon inclusion signals. Antisense oligonucleotides that are designed to skip one or more exon(s) in DMD patients, can allow restoration of the open reading frame, and induce production of novel dystrophin, thereby converting a severe DMD into a typically milder Becker Muscular Dystrophy (BMD) phenotype.
The Frequently Asked Questions section contains some examples of the exon skipping technique and its functionality, as well as many other questions that Prosensa often receives from patients and other interested parties.
Overview clinical symptons DMD
DMD Patient Organizations
Prosensa has established strong partnerships with organizations which take care of the interests of DMD patients and their families.
We have prepared an overview of the most frequently asked questions and provided answers which will hopefully clarify some of your questions about DMD.
Exon skipping is a highly specific technique. Therefore, it cannot be applied to all sub-populations of DMD patients. In order to determine if exon skipping could potentially help a given patient, it is essential to define the mutation in…
The lead product, drisapersen, is currently involved in several clinical studies. PRO044 and PRO045 which aim at different sub-populations of DMD patients, are all in different Phase I/IIa clinical studies.