New Medicines

Neuronal ceroid lipofuscinosis (CLN) type 6 (Batten disease) - first-line


Advanced therapy medicinal product (ATMP)
Amicus Therapeutics
Amicus Therapeutics

Development and Regulatory status

Phase II Clinical Trials
Aug 19 · Granted orphan drug status in EU [3].


Gene therapy
Batten disease is caused by a mutation in the CLN3 gene at gene locus 16p12.1. Of the nine clinical variants (CLN1-CLN9), six have been genetically identified (as well as the CLN3 gene, these include CLN1, CLN2, CLN5, CLN6 and CLN8). It occurs in about 1 to 5 cases per 100,000 generally. There is often rapid deterioration of vision and a slower, but progressive deterioration of intellect. Seizures and psychosis develop later, and there may be features of Parkinson disease [1].
Neuronal ceroid lipofuscinosis (CLN) type 6 (Batten disease) - first-line

Trial or other data

Oct 19 · PI/II study (NCT02725580) is active but has finished recruiting [2].
Mar 16 · PI/II open-label, single-dose study of AT-GTX-501 administered intrathecally into the lumbar spinal cord region of patients with mild to moderate CLN6 Batten disease starts (NCT02725580). This study consists of a one-time injection of AT-GTX-501 with follow-up visits on Day 7, 14, 21, and 30, and every 3 months thereafter, ending at Month 24. The primary outcome for this clinical study is safety evaluated based on the development of dose limiting toxicity (defined as any unanticipated AE that is considered related to AT-GTX-501 and is Common Terminology Criteria for Adverse Events Grade 3 or higher). The secondary outcome measures include the modified Hamburg scale, Unified Batten Disease Rating Scale (UBDRS), brain magnetic resonance imaging (MRI), cognitive and language evaluations, Pediatric Quality of Life™ (PedsQL) inventory, ophthalmologic examinations, and long-term monitoring electroencephalograms. A long-term follow-up safety and efficacy study in subjects with CLN6 Batten disease who received AT-GTX-501 in Study AT-GTX-501-01 is planned (Study AT-GTX-501-02). 13 patients aged 1 year and old (including adults) will be recruited in the US. Collection of primary outcome data is due to complete Oct 21 [2].