In a comprehensive article, American specialists analyse practices and prospects for newborn screening for Duchenne muscular dystrophy in the United States:
- this screening is technically feasible and is based on creatine phosphokinase (CPK) testing in the first days of life, confirmed by DMD gene testing,
- from August 2023, the Federal Committee responsible for proposing recommendations on neonatal screening was consulted and considered extending it to DMD, but did not proceed due to a lack of solid arguments,
- despite this, several US states, such as Ohio and Minnesota, have already implemented it on an experimental basis.
In this article, the authors emphasise the change in circumstances since the commercialisation of several innovative therapies, including a gene therapy product, and argue for a review of the decision.
