New Paper Summarises Clear, Well-Defined Treatment Pathway for Babies Diagnosed with SMA via Newborn Screening

A new paper, developed in partnership with leading clinicians, summarises the clear, well-defined treatment pathways for babies diagnosed with SMA via newborn screening. In summary:

• A baby’s positive screening test will be communicated to his/her parents/caregivers by an experienced SMA clinician who will conduct a confirmatory test on an independent blood sample.

• The current turnaround time for this confirmatory test is 7-14 days. This needs to be shortened to 3 days if infants are to derive the maximum benefits of treatments.

• Babies who are diagnosed with SMA via newborn screening will follow a clear, well-defined pathway that will provide parents/caregivers with the accurate information they need to understand the baby’s condition and the treatment options available.

• As it is anticipated that babies diagnosed with SMA via newborn screening are more likely to be asymptomatic, the number of the copies of the SMN2 gene they have, alongside potential and visible symptoms they have, will help inform the most appropriate treatment pathway.

For further information, including details of proposed treatment plans according to the expert diagnosis that is made, please see the paper here.