Emily de Los Reyes1, Lenora Lehwald2, Erika F Augustine3, Elizabeth Berry-Kravis4, Karen Butler5, Natalie Cormier6, Scott Demarest7, Sam Lu8, Jacqueline Madden8, Joffre Olaya9, Susan See10, Amy Vierhile3, James W Wheless5, Amy Yang11, Jessica Cohen-Pfeffer12, Dorna Chu12, Fernanda Leal-Pardinas12, Raymond Y Wang13. 1. Department of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio. Electronic address: Emily.delosReyes@nationwidechildrens.org. 2. Department of Pediatric Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio. 3. Department of Neurology, University of Rochester Medical Center, Rochester, New York; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York. 4. Department of Pediatrics, Rush University Medical Center, Chicago, Illinois; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois. 5. Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee; Division of Pediatric Neurology, University of Tennessee Health Science Center, Memphis, Tennessee. 6. Department of Pediatric Neurosurgery, Texas Children's Hospital, Houston, Texas. 7. Departments of Pediatrics and Neurology, Children's Hospital Colorado, University of Colorado School of Medicine, Denver, Colorado. 8. Department of Gastroenterology, UCSF Benioff Children's Hospital Oakland, Oakland, California. 9. Neuroscience Unit, Children's Hospital of Orange County, Orange, California; Department of Neurosurgery, University of California, Irvine School of Medicine, Orange, California. 10. Children's Hospital of Orange County, Orange, California. 11. Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon. 12. BioMarin Pharmaceutical Inc., Novato, California. 13. Department of Pediatrics, Irvine School of Medicine, University of California, Orange, California; Department of Metabolic Disorders, Children's Hospital of Orange County, CHOC Children's Specialists, Orange, California.
Abstract
BACKGROUND: Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. Cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme, is the first and only approved treatment for CLN2 disease and the first approved enzyme replacement therapy administered via intracerebroventricular infusion. METHODS: A meeting of health care professionals from US institutions with experience in cerliponase alfa treatment of children with CLN2 disease was held in November 2018. Key common practices were identified, and later refined during the drafting of this article, that facilitate safe chronic administration of cerliponase alfa. RESULTS: Key practices include developing a multidisciplinary team of clinicians, pharmacists, and coordinators, and institution-specific processes. Infection risk may be reduced through strict aseptic techniques and minimizing connections and disconnections during infusion. The impact of intracerebroventricular device design on port needle stability during extended intracerebroventricular infusion is a critical consideration in device selection. Monitoring for central nervous system infection is performed at each patient contact, but with flexibility in the degree of monitoring. Although few institutions had experienced positive cerebrospinal fluid test results, the response to a positive cerebrospinal fluid culture should be determined on a case-by-case basis, and the intracerebroventricular device should be removed if cerebrospinal fluid infection is confirmed. CONCLUSIONS: The key common practices and flexible practices used by institutions with cerliponase alfa experience may assist other institutions in process development. Continued sharing of experiences will be essential for developing standards and patient care guidelines.
BACKGROUND:Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1deficiency. Cerliponase alfa, a recombinant humantripeptidyl peptidase 1 enzyme, is the first and only approved treatment for CLN2 disease and the first approved enzyme replacement therapy administered via intracerebroventricular infusion. METHODS: A meeting of health care professionals from US institutions with experience in cerliponase alfa treatment of children with CLN2 disease was held in November 2018. Key common practices were identified, and later refined during the drafting of this article, that facilitate safe chronic administration of cerliponase alfa. RESULTS: Key practices include developing a multidisciplinary team of clinicians, pharmacists, and coordinators, and institution-specific processes. Infection risk may be reduced through strict aseptic techniques and minimizing connections and disconnections during infusion. The impact of intracerebroventricular device design on port needle stability during extended intracerebroventricular infusion is a critical consideration in device selection. Monitoring for central nervous system infection is performed at each patient contact, but with flexibility in the degree of monitoring. Although few institutions had experienced positive cerebrospinal fluid test results, the response to a positive cerebrospinal fluid culture should be determined on a case-by-case basis, and the intracerebroventricular device should be removed if cerebrospinal fluid infection is confirmed. CONCLUSIONS: The key common practices and flexible practices used by institutions with cerliponase alfa experience may assist other institutions in process development. Continued sharing of experiences will be essential for developing standards and patient care guidelines.
Authors: Maria Francisca Coutinho; Juliana Inês Santos; Liliana S Mendonça; Liliana Matos; Maria João Prata; Amália S Jurado; Maria C Pedroso de Lima; Sandra Alves Journal: Int J Mol Sci Date: 2020-08-10 Impact factor: 5.923