Management Strategies for CLN2 Disease.
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.
Children's Neurosciences Centre, Evelina London Children's Hospital, London, United Kingdom. Electronic address: ruth.williams@gstt.nhs.uk.
Ruth E
RE
Williams
Department of Neurology, University of Rochester School of Medicine, Rochester, New York.
Heather R
HR
Adams
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Martin
M
Blohm
BioMarin Pharmaceutical Inc., Novato, California.
Jessica L
JL
Cohen-Pfeffer
Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio.
Emily
E
de Los Reyes
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Jonas
J
Denecke
Journeycare for Children, Chicago, Illinois.
Kristen
K
Drago
Children's Neurosciences Centre, Evelina London Children's Hospital, London, United Kingdom.
Charlie
C
Fairhurst
Batten Disease Support and Research Association (BDSRA), Columbus, Ohio.
Margie
M
Frazier
Metabolic Diseases Section, Children's Hospital of Cordoba, Cordoba, Argentina.
Norberto
N
Guelbert
Department of Ophthalmology, Weill Cornell Medical College, New York, New York.
Szilárd
S
Kiss
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Annamaria
A
Kofler
Department of Neurology, Sydney Children's Hospital, Randwick, Australia.
John A
JA
Lawson
Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio.
Lenora
L
Lehwald
Children's Neurosciences Centre, Evelina London Children's Hospital, London, United Kingdom.
Mary-Anne
MA
Leung
Department of Medical Genetics, Russian Children's Clinical Hospital, Moscow, Russia; Department of Molecular and Cell Genetics, Russian National Research Medical University, Moscow, Russia.
Svetlana
S
Mikhaylova
Department of Neurology, University of Rochester School of Medicine, Rochester, New York.
Jonathan W
JW
Mink
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Miriam
M
Nickel
BioMarin Pharmaceutical Inc., Novato, California.
Renée
R
Shediac
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Katherine
K
Sims
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Nicola
N
Specchio
Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.
Meral
M
Topcu
Practice Paediatric Physiotherapy, Hamburg, Germany.
Ina
I
von Löbbecke
Batten Disease Family Association (BDFA), Farnborough, United Kingdom.
Andrea
A
West
Paediatric Palliative Care Centre, Children's and Adolescents' Hospital, Datteln, Germany; Department of Children's Pain Therapy and Paediatric Palliative Care, Faculty of Health-School of Medicine, Witten/Herdecke University, Germany.
Boris
B
Zernikow
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Angela
A
Schulz
D019468:Disease Management; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000628:therapy*; D000091346:Tripeptidyl-Peptidase 1
CLN2 disease; consensus; late-infantile Batten disease; late-infantile neuronal ceroid lipofuscinosis; management; neuronal ceroid lipofuscinosis type 2; palliative care