Type II CLN2 Disease Management: Cutting Edge Therapy in the Ambulatory Setting

Track: 30 Minute Podium

Session Number: 301A
Date: Thu, Apr 25th, 2019
Time: 11:00 AM - 11:30 AM

Description:

Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel HH, eds. The neuronal ceroid lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.
Claussen M, Heim P, Knispel J, Goebel HH, Kohlschütter A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet. 1992;42:536-538.
Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta. 2006;1762:850-856.
Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. 2001 Oct 10 [Updated 2013 Aug 1]. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews®.
Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005;6:107-126.
Steinfeld R, Heim P, von Gregory H, et al. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet. 2002;112:347-35
Vuillemenot BR, Kennedy D, Cooper J, et al. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis. MolGenet Metab. 2015;114:281-293.
Brineura [package insert]. Novato, CA: BioMarin Pharmaceutical Inc.; 2017
Session Type: Clinical Practice

Session Description: NA
Primary Presenter Bio: NA
Primary Presenter Institution: Children's National Medical Center
Presenter 2 Bio: NA
Session Type: Clinical Practice

Session Description: NA
Primary Presenter Bio: NA
Primary Presenter Institution: Children's National Medical Center
Presenter 2 Bio: NA