The 195th ENMC International Workshop on Neonatal Screening for Duchenne Muscular Dystrophy (DMD) was held in Naarden, the Netherlands, from December 14-16, 2012. A detailed report on the results of this meeting has been published in the journal Neuromuscular Disorders. Although the estimated global incidence of DMD is closer now to 1:5000, there are currently no immediate pharmacological interventions for children with DMD. The lack of available treatments is, according to authorities regulating newborn screening programs worldwide, a significant barrier to the inclusion of DMD in national screening programs. The report points out that any delay in the diagnosis process results in a delay in genetic counseling and possibly the birth of a second child with DMD. The report states that although the diagnosis of DMD is never welcome, being able to receive it in time allows for the appropriate planning of necessary financial, reproductive and social support.
The report also highlights positive aspects, such as drug trials for the treatment of DMD. It warns that although the results of ongoing experimental studies using drugs involving exon skipping and "read-through" of stop codons look promising and results from confirmatory phase 3 studies will be available during 2013, there is currently no immediate intervention in the neonatal period that brings direct benefit to children affected by DMD.
However, in light of these drug developments, the report encourages being prepared for screening programs should a satisfactory treatment for DMD become available in the near future. To be prepared for this eventuality, the report emphasizes the need to strengthen efforts to develop a Standard Operating Procedure for a screening test and distribute it to other screening sites around the world, so that the effectiveness of screening can be evaluated across multiple children and populations.