Resolution of the Expert Council “Open questions in the management of patients with neuronal ceroid lipofuscinosis type 2”
- Issue: Vol 21, No 1 (2026)
- Pages: 81-85
- Section: CONFERENCES, SYMPOSIA, MEETINGS
- Published: 30.04.2026
- URL: https://rjdn.abvpress.ru/jour/article/view/548
- DOI: https://doi.org/10.17650/2073-8803-2026-21-1-81-85
- ID: 548
Cite item
References
- Aylward S.C., Pindrik J., Abreu N.J. et al. Cerliponase alfa for CLN2 disease, a promising therapy. Expert Opin Orphan Drugs 2020;8(11):445–54.
- Boop S., Nistal D., Barrios-Anderson A. et al. Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Childs Nerv Syst 2025;41(1):172. doi: 10.1007/s00381-025-06822-4
- Breuillard D., Ouss L., Le Normand M.T. et al. Ceroid lipofuscinosis type 2 disease: effective presymptomatic therapy – oldest case of a presymptomatic enzyme therapy. Eur J Neurol 2024;31(9):e16324. doi: 10.1111/ene.16324
- Brineura Treatment for CLN2 Disease – The Managed Access Agreement. Available at: https://www.rd-rp.com/managed-access-agreement-resources.
- Columbia University Irving Medical Center, NewYork-Presbyterian Hospital, and the New York State Department of Health. “Conditions Screened”. GUARDIAN Study. 2021. Available at: https://guardian-study.org/overview/.
- De Los Reyes E., Lehwald L., Augustine E.F. et al. Intracerebroventricular cerliponase alfa for neuronal ceroid lipofuscinosis type 2 disease: clinical practice considerations from US clinics. Pediatr Neurol 2020;110:64–70. doi: 10.1016/j.pediatrneurol.2020.04.018
- EMA. Available at: https://www.ema.europa.eu/.
- FDA. Available at: https://www.fda.gov/.
- Fote G.M., Schafenacker A., Singh J. et al. Management of positive cerebrospinal fluid cultures from intraventricular reservoirs of neuronal ceroid lipofuscinosis type 2 patients: one institution’s experience. J Neurosurg Pediatr 2025;36(5):649–56. doi: 10.3171/2025.4.PEDS24452
- Jones S.A., Cheillan D., Chakrapani A. et al. Application of a novel algorithm for expanding newborn screening for inherited metabolic disorders across Europe. Int J Neonatal Screen 2022;8(1):20. doi: 10.3390/ijns8010020
- Kovacs K.D., Patel S., Orlin A. et al. Symmetric age association of retinal degeneration in patients with CLN2-associated Batten disease. Ophthalmol Retina 2020;4(7):728–36. doi: 10.1016/j.oret.2020.01.011
- Mole S.E., Schulz A., Badoe E. et al. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet J Rare Dis 2021;16(1):185. doi: 10.1186/s13023-021-01813-5
- 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):582–90. doi: 10.1016/S2352-4642(18)30179-2
- Orlin A., Sondhi D., Witmer M.T. et al. Spectrum of ocular manifestations in CLN2-associated batten (Jansky–Bielschowsky) disease correlate with advancing age and deteriorating neurological function. PLoS One 2013;8(8):e73128. doi: 10.1371/journal.pone.0073128
- Priglinger C., Courage C., Maier E.M. et al. Enzyme replacement therapy in CLN2-associated retinopathy. Klin Monbl Augenheilkd 2025;242(3):213–8. doi: 10.1055/a-2528-7886
- Read J., Donald A., Rhead S. et al. Chest-sited intraventricular access devices for cerliponase alfa infusion in Batten disease at a single tertiary United Kingdom pediatric center. J Neurosurg Pediatr 2025;37(1):87–94. doi: 10.3171/2025.7.PEDS25222
- Rodrigues D., de Castro M.J., Crujeiras P. et al. The LINCE Project: a pathway for diagnosing NCL2 disease. Front Pediatr 2022;10:876688. doi: 10.3389/fped.2022.876688
- Rogers D.L., Blind J.E., Kienzle T. et al. Same-day approach for combined intravitreal and intracerebroventricular enzyme replacement therapy to prevent retinal disease progression in children with neuronal ceroid lipofuscinosis type 2. Pediatr Neurol 2025;170:1–3. doi: 10.1016/j.pediatrneurol.2025.06.007
- Sampaio L.P.B., Manreza M.L.G., Pessoa A. et al. Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group. Arq Neuropsiquiatr 2023;81(3):284–95. doi: 10.1055/s-0043-1761434
- Schulz A., de los Reyes E., Specchio N. et al. Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age. 20th Annual World Symposium, 2024, San Diego, USA.
- Schulz A., Ajayi T., Specchio N. et al. CLN2 Study Group. Study of intraventricular cerliponase alfa for CLN2 disease. N Engl J Med 2018;378(20):1898–907. doi: 10.1056/NEJMoa1712649
- Schwering C., Kammler G., Wibbeler E. et al. Development of the “Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease” based on 6 years treatment experience in 48 patients. J Child Neurol 2021;36(8):635–41. doi: 10.1177/0883073821989154
- Shock M., Nigro E., Donner E.J., Whitney R. CLN2 disease: current understandings, challenges, and future directions. J Child Neurol 2026;41(1):118–34. doi: 10.1177/08830738251374539
- Specchio N., Pietrafusa N., Trivisano M. Changing times for CLN2 disease: the era of enzyme replacement therapy. Ther Clin Risk Manag 2020;16:213–22. doi: 10.2147/TCRM.S241048
- Warrier V., Vieira M., Mole S.E. Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochim Biophys Acta 2013;1832(11):1827–30. doi: 10.1016/j.bbadis.2013.03.017
- Wawrzynski J., Martinez A.R., Thompson D.A. et al. First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy. Eye (Lond) 2024;38(6):1176–82. doi: 10.1038/s41433-023-02859-4
- Williams R.E., Adams H.R., Blohm M. et al. Management strategies for CLN2 disease. Pediatr Neurol 2017;69:102–12. doi: 10.1016/j.pediatrneurol.2017.01.034
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