Cerliponase alfa for CLN2 disease, a promising therapy

References

• Williams RE, Adams HR, Blohm M, et al. Management strategies for CLN2 disease. Pediatr Neurol. 2017;69:102–112.
   PubMed Web of Science ®Google Scholar
• Sleat DE, Donnely RJ, Lackland H. Association of mutation in a lysosomal protease in clasic late infantile neuronal ceroid lipofusicinsosis, a neurodegenerative disorder. Am J Hum Genet. 1999;64:1511–1523.
   PubMed Web of Science ®Google Scholar
• Sharp JD, Wheeler RB, Lake BD, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosome 11p15 and 15q21-23. Hum Mol Genet. 1997;6:591–595.
   PubMed Web of Science ®Google Scholar
• Haltia M, Goebel HH. The neuronal ceroid-lipofuscinoses: a historical introduction. Biochim Biophys Acta. 2013;1832(11):1795–1800.
   PubMed Web of Science ®Google Scholar
• Nickel M, Simonati A, Jacoby D, et al. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. Lancet Child Adolesc Health. 2018;2(8):582–590.
   PubMedGoogle Scholar
• Schulz A, Kohlschutter A, Mink J, et al. NCL diseases-clinical perspectives. Biochem Biophys Acta. 2013;1832:1801–1806.
   PubMed Web of Science ®Google Scholar
• Albert D, Yin H, de Los Reyes E, et al. Unique characteristics of the photoparoxysmal response in neuronal ceroid lipofuscinosis type 2, Can EEG be a Biomarker? J Child Neurol. 2016;31(13):1475–1482.
   PubMed Web of Science ®Google Scholar
• Specchio N, Bellusci M, Pietrafusa N, et al. Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease. Epilepsia. 2017;58:1380–1388.
   PubMed Web of Science ®Google Scholar
• Dyke JP, Sondhi D, Voss HU, et al. Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. AJNR Am J Neuroradiol. 2013;34(4):884–889.
   PubMed Web of Science ®Google Scholar
• Lobel U, Sedlacik J, Nickel M, et al. Volumetric description of brain atrophy in neuronal ceroid lipofuscinosis 2: supratentorial gray matter shows uniform disease progression. Am J Neuroradiol. 2016;37(10):1938–1943.
   PubMed Web of Science ®Google Scholar
• Biswas A, Kirshnan P, Amirabadi A, et al. Expanding the neuroimaging phenotype of neuronal ceroid lipofuscinoses. Am J Neuroradiol. 2020;41(10):1930–1936.
   PubMed Web of Science ®Google Scholar
• Feitz M, Al Sayed M, Burke D, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): expert recommendation for early detection and laboratory diagnosis. Mol Genet Metabl. 2016;119:160–167.
   PubMed Web of Science ®Google Scholar
• Zong N, Wisniewski KE, Hartikainen J, et al. Two common mutations in CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. Clin Gent. 1998;54:234–238.
   PubMed Web of Science ®Google Scholar
• 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(4):347–354.
   PubMed Web of Science ®Google Scholar
• Worgall S, Kekatpure MV, Heier L, et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology. 2007;69(6):521–535.
   PubMed Web of Science ®Google Scholar
• Marshall FJ, de Blieck EA, Mink JW, et al. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005;65(2):275–279.
   PubMed Web of Science ®Google Scholar
• Schulz A, Ajayi T, Specchio N, et al. Study of intraventricular cerliponase alfa for CLN2 disease. N Engl J Med. 2018;378(20):1898–1907.
   PubMed Web of Science ®Google Scholar
• Regier DS and Tanpaiboon P. Role of elosulfase alfa in mucopolysaccharidoses IVA . Appl Clin Genet 2016 (cited 2020 November 30) ; 9: 67–74
   Google Scholar
• Hendriksz CJ, Burton B, Fleming TR, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014;37:979–990.
   PubMed Web of Science ®Google Scholar
• Meyer K, Ferraiuolo L, Schmelzer L, et al. Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates. Mol Ther. 2015;3(3):477–487.
   Google Scholar
• Higuchi T, Shimizu H, Fukuda T, et al. Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II. Mol Genet Metab. 2012;107(1–2):122–128.
   PubMed Web of Science ®Google Scholar
• Beard H, Luck AJ, Hassiotis S, et al. Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice. Mol Genet Metab. 2015;115(1):33–40.
   PubMed Web of Science ®Google Scholar
• Janson CG, Romanova LG, Leone P, et al. Comparison of endovascular and intraventricular gene therapy with adeno-associated virus-α-l-iduronidase for hurler disease. Neurosurg. 2014;74(1):99–111.
   PubMed Web of Science ®Google Scholar
• Vuillemenot BR, Kennedy D, Cooper JD, et al. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis. Mol Genet Metab. 2015;114(2):281–293.
   PubMed Web of Science ®Google Scholar
• Wolf DA, Banerjee S, Hackett PB, et al. Gene therapy for neurologic manifestations of mucopolysaccharidoses. Exp Opin Drug Deliv. 2015;12(2):283–296.
   PubMed Web of Science ®Google Scholar
• Kleine Holthaus SM, Herranz-Martin S, Massaro G, et al. Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. Hum Mol Genet. 2019;28(23):3867–3879.
   PubMed Web of Science ®Google Scholar
• FDA. Brineura (cerliponase alfa) Injection [ Internet]. 2017 [cited 2020 Aug 22]. EMA. Brineura: summary of product characteristics. p. 1–32.
   Google Scholar
• Lin L, Lobel P. Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis. Biochem J. 2001;357:49–55.
   PubMed Web of Science ®Google Scholar
• Parenti G, Pignata C, Vajro P, et al. New strategies for the treatment of lysosomal storage diseases (Review). Int J Mol Med. 2013;31(1):11–20.
   PubMed Web of Science ®Google Scholar
• Vuillemenot BR, Kennedy D, Cooper JD, et al. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis. Mol Genet Metab. 2015;114(2):281–293. Internet.
   PubMed Web of Science ®Google Scholar
• Vuillemenot BR, Katz ML, Coates JR, et al. Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis. Mol Genet Metab. 2011;104(3):325–337.
   PubMed Web of Science ®Google Scholar
• Katz ML, Coates JR, Sibigtroth CM, et al. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). J Neurosci Res. 2014;92(11):1591–1598.
   PubMed Web of Science ®Google Scholar
• Chang M, Cooper JD, Sleat DE, et al. Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther. 2008;16(4):649–656.
   PubMed Web of Science ®Google Scholar
• Vuillemenot BR, Kennedy D, Reed RP, et al. Recombinant human tripeptidyl peptidase-1 infusion to the monkey CNS: safety, pharmacokinetics, and distribution. Toxicol Appl Pharmacol. 2014;277(1):49–57.
   PubMed Web of Science ®Google Scholar
• Whiting REH, Narfström K, Yao G, et al. Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp Eye Res. 2014;125:164–172.
   PubMed Web of Science ®Google Scholar
• Whiting REH, Robinson KG, Ota-Kuroki J, et al. Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res Sep. 2020;1(198):14–4835.
   Google Scholar
• Markham A. Cerliponase Alfa: first Global Approval.Drugs. 2017 [cited 2020 Aug 25];77(11):1247–1249.
   PubMed Web of Science ®Google Scholar
• Katz ML, Tecedor L, Chen Y, et al. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease. Sci Transl Med. 2015;7(313):313.
   Web of Science ®Google Scholar
• Sondhi D, Hackett NR, Peterson DA, et al. Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector. Mol Ther. 2007;15(3):481–491.
   PubMed Web of Science ®Google Scholar
• Passini MA, Dodge JC, Bu J, et al. Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci. 2006;26(5):1334–1342.
   PubMed Web of Science ®Google Scholar
• Katz ML, Johnson GC, Leach SB, et al. Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. Gene Ther. 2017;24(4):215–223.
   PubMed Web of Science ®Google Scholar
• Worgall S, Sondhi D, Hackett NR, et al. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum Gene Ther. 2008;19(5):463–474.
   PubMed Web of Science ®Google Scholar
• Souweidane MM, Fraser JF, Arkin LM, et al. Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations. J Neurosurg Pediatr. 2010;6(2):115–122.
   PubMed Web of Science ®Google Scholar
• Crystal RG, Sondhi D, Hackett NR, et al. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis. Hum Gene Ther. 2004;15(11):1131–1154.
   PubMed Web of Science ®Google Scholar
• Selden NR, Al-Uzri A, Huhn SL, et al. Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. J Neurosurg Pediatr. 2013;11(6):643–652.
   PubMed Web of Science ®Google Scholar
• Ghosh A, Rangasamy SB, Modi KK, et al. Gemfibrozil, food and drug administration approved lipid lowering drug, increases longevity in mouse model of late infantile neuronal ceroild lipofuscinosis. J Neurchem. 2017;141:423–435.
   PubMed Web of Science ®Google Scholar
• Wyrwich KW, Schulz A, Nickel M, et al. An adapted clinical measurement tool for the key symptoms of CLN2 disease. J Inborn Errors Metab Screen. 2018;6:1–7.
   Google Scholar
• Schulz A, Specchio N, Gissen P, et al. Persistent treatment effect of cerliponase alfa in children with CLN2 disease: A.>4 year update from an ongoing multicenter extension study. Mol Genet Metab. 2020;120(2):S145.
   Google Scholar
• Schulz A, de Los Reyes E, Specchio N, et al. Cerliponase alfa for the treatment of CLN2 disease in an expanded patient cohort including children younger than three years: interim results from an ondoing study. Mol Genet Metab. 2020;120(2):S145.
   Google Scholar
• Cherukuri A, Cahan H, de Hart G, et al. Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: results from a Phase ½ study. Clin Immunol. 2018;197:68–76.
   PubMed Web of Science ®Google Scholar
• Govender ST, Nathoo N, van Dellen JR. Evaluation of an antibiotic-impregnated shunt system for the treatment of hydrocephalus. J Neurosurg. 2003;99(5):831–839.
   PubMed Web of Science ®Google Scholar
• Sciubba DM, Noggle JC, Carson BS, et al. Antibiotic-impregnated shunt catheters for the treatment of infantile hydrocephalus. Pediatr Neurosurg. 2008;44:91–96.
   PubMed Web of Science ®Google Scholar
• Sciubba DM, Stuart RM, McGirt MJ, et al. Effect of antibiotic-impregnated shunt catheters in decreasing the incidence of shunt infection in the treatment of hydrocephalus. J Neurosurg. 2005;103:131–136.
   PubMed Web of Science ®Google Scholar
• de Los Reyes E, Lehwald L, Augustine EF, et al. Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020;110:64–70.
   PubMed Web of Science ®Google Scholar
• BioMarin Pharmaceutical Inc. Prescribing Information: brineura (cerliponase alfa) injection, for intraventricular use. [cited December 2018]. https://www.brineura.com/wp-content/themes/jupiter-child/assets/pdfs/resources/Brineura-Prescribing-Information.pdf
   Google Scholar
• Portillo ME, Corvec S, Borens O, et al. Propionibacterium acnes: an underestimated pathogen in implant-associated infections. Biomed Res Int. 2013 published online 2014 Nov 6;2013:1–10.
   PubMed Web of Science ®Google Scholar
• Tunkel AR, Hasbun R, Bhimraj A, et al. 2017 Infectious Diseases Society of America’s clinical practice guidelines for healthcare-associated ventriculitis and meningitis. Clin Infect Dis. 2017;64(6):e34–65.
   PubMedGoogle Scholar
• Abreu NJ, Waldrop MA. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy. Pediatr Pulmonol. 2020. published online 2020 Nov 4. DOI:10.1002/ppul.25055.
   PubMed Web of Science ®Google Scholar
• Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713–1722.
   PubMed Web of Science ®Google Scholar
• Stapleton M, Kubaski F, Mason RW. Presentation and treatment for mucopolysaccharidoses type II (MPS II; hunter syndrome). Expert Opin Orphan Drug. 2017;5(4):295–307.
   PubMed Web of Science ®Google Scholar
• Whiting REH, Pearce JW, Vansteenkiste DP, et al. Intravitreal enzyme replacement preserve retinal strucutre and function in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res. 2020;197:108–130.
   Web of Science ®Google Scholar
• Specchio N, Pietrafusa N, Trivisano M. Changing times for CLN2 disease: the era of enzyme replacement therapy. Ther Clin Risk Manag. 2020;16:213–222.
   PubMed Web of Science ®Google Scholar
• Mole S, Anderson G, Band HA, et al. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol. 2019;18(1):107–116.
   PubMed Web of Science ®Google Scholar
• Johnson T, Cain J, White K, et al. Therapeutic landscape for Batten disease: current treatments and future prospects. Nat Rev Neurol. 2019;15(3):161–178.
   PubMed Web of Science ®Google Scholar
• Masten M, Mink J, Augustine E Batten’s disease: an expert update on agents in preclinical and clinical trials. Exp Opin Investig Drugs. [cited 2020 Nov 1]: doi: 10.1080/13543784/2020/1837110. 1–6
   Web of Science ®Google Scholar
• Kim J, Hu C, Moufawad El Achkar C, et al. Patient customized oligonucleotide therapy for a rare genetic disease. N Engl J Med. 2019;381(17):1644–1652.
   PubMed Web of Science ®Google Scholar