💬In plain words
What the trial is, and whether it could suit you
Spinal Muscular Atrophy (SMA) is a disease that causes progressive muscle weakness. There are many types- the most severe and most common, type 1, affects very young babies, and is life-threatening if untreated. Other types can cause significant disability. Most cases are caused by a missing part of the survival motor neuron 1 (SMN1) gene. Another related gene, SMN2, can partially compensate for this affected gene. With more copies of SMN2 broadly leading to a milder disease.
Three new treatments can slow or prevent symptoms, but they work best when given before symptoms appear. This has led to many countries, including the USA and much of Europe, introducing newborn screening (NBS) for SMA, so that affected babies can be treated as early as possible. The investigators ran a UK pilot project that screened nearly 33,000 babies and found the test to be accurate and practical, but this pil
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
Inclusion Criteria:
* Newborn for SMA screening (and acceptability study)
All newborns will be included if:
* Their parent(s)/guardian(s)' consent to the addition of SMA screening
* Their DBS card will be processed at a screening centre that has been opened for SMA screening
* If They are born between October 2026 and September 2030
For the acceptability study the parent(s)/guardian(s) of newborns (see criteria above) will be included whether they accept or decline screening.
SMA patients for follow up (and acceptability study)
If the patient is diagnosed with SMA by Standard of care route, they are included if they:
* Have a confirmed genetic diagnosis of SMA, regardless of SMN2 copies
* Are born between October 2024 and July 2026 inclusive (Cohort 0)
* Are born between August 2026 and September 2027 inclusive before SMA NBS has been initiated at the NBS testing centre covering their region of birth (Cohort 1a)
* Undergo SMA testing due to symptom onset or family history of SMA (but not through private SMA NBS)
If the patient is diagnosed with SMA through NBS, they are included if they:
* Have a confirmed genetic diagnosis of SMA, regardless of SMN2 copies
* At the time of their birth, SMA NBS has been initiated at the NBS testing centre covering their region of birth
* Are born between October 2026 and November 2027 inclusive (Cohort 1b)
* Are born between December 2027 and September 2028 inclusive (Cohort 2a)
* Are born between October 2028 and March 2029 inclusive and have 3 SMN2 copies (Cohort 2b)
* Are born between April 2029 and September 2030 inclusive (follow-up cohort)
* Undergo SMA testing due to NBS, family history of SMA or symptom onset (If screening was not done regardless of the reason or if screening is a false negative)
Parent(s)/guardian(s) of babies with a negative SMA screening result (acceptability study only) If their baby is born between October 2026 and March 2029 within a region covered by one of the 7 screening laboratories at the time of birth
Healthcare Professionals (acceptability study only)
* If they are involved in the delivery of SMA screening or supporting families following a screening result (if one of the areas covered by SMA screening)
* Or, they support babies and families following SoC diagnosis
* If they are a member of SMA UK staff involved in providing support/guidance to families who receive an SMA diagnosis.
Exclusion Criteria:
* Newborn for SMA screening
Newborns will be excluded from the study if:
• Their parent(s)/guardian(s) do not consent to standard NHS NBS and therefore the heel prick test (Parent(s)/guardian(s) who decline standard NHS NBS will still be invited to take part in the acceptability study)
SMA patients for follow up
Patients with SMA will be excluded from the study if:
• They are diagnosed due to private newborn screening
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