Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2
Overview
Overview
Authors
Authors
Affiliations
Affiliations
Soon will be listed here.
Abstract
Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive lysosomal disease caused by decreased activity of the enzyme tripeptidyl peptidase 1 (TPP1) due to pathogenic variants in the TPP1 gene. Cerliponase alfa, a recombinant proenzyme form of TPP1, has shown efficacy in preventing motor and language function decline in early-stage CLN2. However, the safety and effects of this therapy in advanced-stage CLN2 are unclear. We herein report a case of intraventricular cerliponase alfa treatment for over a year in a patient with advanced-stage CLN2. The results suggest the safety and potential efficacy of treatment at an advanced stage of CLN2.
References
1.
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D
. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018; 378(20):1898-1907.
DOI: 10.1056/NEJMoa1712649.
View
2.
Cooke E, Smith V, Brenner M
. Parents' experiences of accessing respite care for children with Autism Spectrum Disorder (ASD) at the acute and primary care interface: a systematic review. BMC Pediatr. 2020; 20(1):244.
PMC: 7243332.
DOI: 10.1186/s12887-020-02045-5.
View
3.
Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J
. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006; 129(Pt 6):1438-45.
DOI: 10.1093/brain/awl107.
View
4.
Remedios C, Willenberg L, Zordan R, Murphy A, Hessel G, Philip J
. A pre-test and post-test study of the physical and psychological effects of out-of-home respite care on caregivers of children with life-threatening conditions. Palliat Med. 2015; 29(3):223-30.
DOI: 10.1177/0269216314560008.
View
5.
Estublier B, Cano A, Hoebeke C, Pichard S, Scavarda D, Desguerre I
. Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort. Eur J Paediatr Neurol. 2020; 30:17-21.
DOI: 10.1016/j.ejpn.2020.12.002.
View