Why all babies should be screened for life-threatening Duchenne at birth

Last week, Translarna, also known as ataluren, which prompts the body to manufacture a protein that protects against muscle damage which is absent in children with the disease, was licensed under special measures.

Penny hails the introduction of the new drug, but also fully supports the work of the Muscular Dystrophy Campaign and a cross-party group of MPs, who recently recommended that the National Screening Committee update their criteria so that Duchenne can be tested for at birth.

The muscle-wasting condition affects around 2,500 children and young people in the UK, and this update could help the 100 or so babies who are diagnosed each year.

At the moment, Duchenne isnt one of the five main conditions that are tested for, such as sickle cell disease and cystic fibrosis. The reason is that it doesnt fit the NSCs criteria, which says that a condition needs to be:

a) symptomatic at or shortly after birth, and

b) be treatable at or shortly after birth.

With Duchenne, there isnt definitive data of when boys become symptomatic. It can be six to 12 months after birth, but newborn screening is typically done with a blood test five days after birth, and accurate tests are not available yet.

On top of that, it isnt treatable per se, because there still isnt a cure. But, all that could be changing and this is why the MPs are so keen for the NSC to update its criteria while it is already carrying out a review of its practices.

Baroness Celia Thomas, a member of the House of Lords and Vice Chair of the All Party Parliamentary Group for Muscular Dystrophy, explains why theyre calling for a change in newborn screening to include Duchenne.

She says that a new treatment is being trialled, and if all goes well, it could be licensed by next year: At the moment there isnt a treatment but if and when there is, early treatment will be vital. We dont want to find theres a potential treatment but some boys are being diagnosed rather late. Thats why were keen to get on with this and were hoping we can persuade the NSC to update their criteria.

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Why all babies should be screened for life-threatening Duchenne at birth