Management Strategies for CLN2 Disease

Ruth E. Williams, Heather R. Adams, Martin Blohm, Jessica L. Cohen-Pfeffer, Emily de los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A. Lawson, Lenora Lehwald, Mary Anne Leung, Svetlana Mikhaylova, Jonathan W. Mink, Miriam Nickel, Renée Shediac, Katherine SimsNicola Specchio, Meral Topcu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz

Research output: Contribution to journalReview article

Abstract

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability. Twenty-four disease experts were surveyed on CLN2 disease management and a subset met to discuss current practice. Management goals and strategies are consistent among experts globally and are guided by the principles of pediatric palliative care. Goals and interventions evolve as the disease progresses, with a shift in focus from maintenance of function early in the disease to maintenance of quality of life. A multidisciplinary approach is critical for optimal patient care. This work represents an initial step toward the development of consensus-based management guidelines for CLN2 disease.

Original languageEnglish
Pages (from-to)102-112
Number of pages11
JournalPediatric Neurology
Volume69
DOIs
Publication statusPublished - Apr 1 2017

Keywords

  • CLN2 disease
  • consensus
  • late-infantile Batten disease
  • late-infantile neuronal ceroid lipofuscinosis
  • management
  • neuronal ceroid lipofuscinosis type 2
  • palliative care

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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    Williams, R. E., Adams, H. R., Blohm, M., Cohen-Pfeffer, J. L., de los Reyes, E., Denecke, J., Drago, K., Fairhurst, C., Frazier, M., Guelbert, N., Kiss, S., Kofler, A., Lawson, J. A., Lehwald, L., Leung, M. A., Mikhaylova, S., Mink, J. W., Nickel, M., Shediac, R., ... Schulz, A. (2017). Management Strategies for CLN2 Disease. Pediatric Neurology, 69, 102-112. https://doi.org/10.1016/j.pediatrneurol.2017.01.034