Beyond Batten Disease Foundation
The goal of this open-label, single-arm, multicenter study is to assess the efficacy and safety of Batten-1 (oral liquid formulation of miglustat) (15 mg/kg up to 600 mg/day) in approximately 27 pediatric subjects with CLN3 disease over a period of 52 weeks, using visual acuity as primary efficacy endpoint, The main questions it aims to answer are: * Does Batten-1 slow down or stabilize the visual acuity decline in pediatric CLN3 patients ? * What medical problems do participants have when taking Batten-1? in comparison with an external group of non-treated CLN3 disease subjects from natural history studies. After a titration period of 8 weeks, participants will take Batten-1 every day up to 52 weeks and will visit the clinic every 24 weeks for checkups and tests. Participants will keep a diary for potential seizure occurrence and compliance to study drug. Interventions they'll be given include: * visual acuity assessement * motor and capability assessement * safety assessment including lab tests and electrocardiogram * assessment of the effect of the body on Batten-1 * assessment of quality of life
Batten-1 (miglustat oral liquid formulation) may impact the progression of CLN3 disease via mechanisms similar to those described for the treatment of the related neurodegenerative lysosomal storage disorders, Gaucher disease and NPC disease. The dose recommendation follows the European Zavesca label for pediatric and adult Niemann Pick C (NPC) disease, adapted to a weight-based administration of 15mg/kg with a Tres In Dies (TID) dose regimen. Given the concentration of miglustat in the liquid formulation of 250 mg/mL, a volume of 0,02 mL, - the minimal quantity measurable with the pipette - r…
Inclusion Criteria: * Male or female subjects ≥ 4 years and \<18 years of age with a best corrected visual acuity ≤ 1.9 LogMAR (counting fingers) in at least one eye at baseline * Parent/legally authorized representative who have signed and dated informed consent on behalf of the subject; subjects older than 7 years of age may sign and date an assent or give a verbal assent in case of vision loss. * Genetically confirmed diagnosis of syndromic CLN3 disease at screening with EITHER: 1. Two pathogenic/likely pathogenic variants in the CLN3 gene according to the American College of Medical Ge…
Batten-1 will be administered at a dose of 15 mg/kg/day up to 600 mg /day T.I.D. during 52 weeks. A dose titration will be performed during the first 8 weeks of the treatment to reduce potential gastro-intestinal events that may occur at beginning of treatment.