New Medicines

Neuronal ceroid lipofuscinosis (CLN3 Batten disease/syndrome) - first-line


New molecular entity
Amicus Therapeutics
Amicus Therapeutics

Development and Regulatory status

Phase II Clinical Trials
Nov 20Has rare pediatric disease status in US [7].
Nov 20Initial data from the PI/II study expected in early 2021 and Amicus is expecting to advance regulatory discussions in order to finalise the clinical and regulatory path [6].
Aug 19Granted orphan drug status in EU [3].


Gene therapy comprises an AAV9 vector carrying a CLN3 gene
Approx 3-4 children or young people are diagnosed with CLN3 disease (Juvenile Batten Disease) each year in the UK. There are currently 30-40 affected in the UK. The gene called CLN3 was discovered in 1995 and lies on chromosome 16. This gene codes for a transmembrane protein and mutations in the CLN3 gene cause deficiencies that result in abnormal storage of proteins and lipids (fats) in neurons and other cells [1]. EU prevalence is 0.2 in 10,000 people [3].
Neuronal ceroid lipofuscinosis (CLN3 Batten disease/syndrome) - first-line

Trial or other data

Mar 20PI/II study (NCT03770572) is active but no longer recruiting. Timescales unchanged [5].
Feb 20In the PI/II study (NCT03770572), a total of three patients have been dosed in the low dose group, and based on the safety profile to date, the data safety monitoring board cleared Amicus to begin enrolment in the high dose cohort of up to three additional patients. One high dose patient has been dosed, with no serious adverse eventsto date following a single administration of AAV-CLN3 gene therapy [4].
Nov 18PI/II study to evaluate the safety and efficacy of AT-GTX-502 (previous NCH Code: scAAV9.P546.CLN3) delivered intrathecally into the lumbar spinal cord region of subjects with CLN3 Batten disease starts (NCT03770572). 7 children aged 3 to 10 years will be recruited in the US. Collection of primary outcome data (safety and change in rating as determined using the Unified Batten Disease Rating Scale (UBDRS) rating scale at 36 months) is due to complete Jun 23 [2].