What this study looked at
CLN2 disease (a form of Batten disease) causes progressive loss of movement and language in young children. This multicentre, open-label trial gave cerliponase alfa — an enzyme replacement therapy that supplies the missing TPP1 enzyme — as an infusion into the brain's ventricles every two weeks to children aged 3 to 16, and compared their progress against 42 untreated children whose natural history had been documented.
Key takeaways
- Treated children lost motor and language function substantially more slowly than the untreated comparison group.
- Progress was measured on the CLN2 Clinical Rating Scale, with the therapy given by intraventricular infusion every two weeks.
- The results established cerliponase alfa (Brineura) as the first treatment shown to change the course of CLN2 disease, and formed the evidence base for its approval.
Why it matters
It turned CLN2 from an untreatable disease into a treatable one, which is exactly why recognising it early now matters so much.
