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White Paper – Newborn Screening for Duchenne

June 2024

The World Duchenne Organization (WDO) is pleased to announce the release of a comprehensive White Paper titled ‘Newborn Screening for Duchenne Muscular Dystrophy: The Time is Now’.

The aim of this paper is to present the World Duchenne Organization’s position on newborn screening (NBS) for Duchenne muscular dystrophy (DMD) based on families’ experiences and scientific developments.

The white paper provides a thorough analysis of the urgent need for NBS for DMD. It offers information and guidance for national patient organizations to advocate for starting a NBS program for DMD in their country or region. The paper was developed by a working group and reviewed by leading experts in the field.

Without NBS, young children between 0- to 4-years of age who are still undiagnosed miss the opportunity of starting treatments that can preserve their muscles and delay the loss of function. As aptly put by a US mother: “Muscles lost are lost forever”

A mother of a now 14-year-old boy confirms:

It’s more important than ever that parents are able to receive the diagnosis early and not go through a long diagnostic journey. Some of the new treatments, in fact, our gene therapy that was recently approved is only for 4- and 5-year-olds right now. So if you are diagnosed at 6 or 7 or even later, you miss your window of opportunity.

About Duchenne Muscular Dystrophy

DMD is a severe, X-linked genetic disorder and the most common form of muscular dystrophy in children, affecting approximately 1 in 5,000 live male births. Mutations in the dystrophin gene lead to progressive muscle fiber loss and weakness. The missing protein also has a function in the brain, so learning- and behavior issues can also be part of the disease.

About the World Duchenne Organization

The World Duchenne Organization is a global umbrella organization of national patient organizations. We are dedicated to finding a cure and viable treatments for DMD, to promoting good standards of care, and to inform parents and people living with the condition around the globe.