What this study looked at
Most evidence for treating CLN2 disease (a form of Batten disease) comes from the classic late-infantile form, leaving the atypical, non-classic form less well understood. This chart review looked at 14 children with atypical CLN2 who were treated with cerliponase alfa infused into the brain's ventricles — a group whose response had not previously been described.
Key takeaways
- The first symptoms were most often language abnormalities or seizures, appearing at a median age of about 5.9 years.
- Diagnosis was frequently late, at a median age of around 10.8 years, reflecting how easily atypical cases are missed.
- Motor and language scores remained stable in most children during treatment, which was generally well tolerated, although some children developed device-related infections.
Why it matters
It strengthens the case for offering treatment to children with atypical CLN2, not only those with the classic late-infantile form.
