Practical aspects of intracerebroventricular infusions of cerliponase alfa in patients with neuronal ceroid lipofuscinosis type 2

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Abstract

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, autosomal recessive neurodegenerative disorder caused by mutations in the TPP1 gene, which lead to a decrease or complete loss of lysosomal tripeptidyl peptidase 1 enzyme activity. The classic form of CLN2 disease typically manifests between the ages of 2 and 4 years. Over time, there is a rapid and predictably severe progression of intellectual and motor deficits, loss of visual acuity, and an increased frequency of epileptic seizures refractory to antiepileptic therapy. In its natural course, the classic form of CLN2 disease leads to severe disability by 6–7 years of age and death on average during the 10th year of life. Currently, pathogenetic enzyme replacement therapy has been developed only for CLN2 disease, utilizing the drug cerliponase alfa. In Russia, children with CLN2 disease are provided with cerliponase alfa through funding from the “Circle of Kindness”, a state fund supporting children with severe life-threatening and chronic diseases, including rare (orphan) conditions.

Cerliponase alfa cannot cross the blood-brain barrier and must be administered directly into the cerebrospinal fluid via intracerebroventricular (ICV) infusion through a surgically implanted reservoir and ventricular catheter. Infectious complications can result in missed ICV infusions, which, in turn, may adversely affect the efficacy of enzyme replacement therapy. To reduce the risk of infectious complications, strict adherence to aseptic rules is essential during patient preparation, as well as during and after the ICV infusion.

These practical guidelines for performing ICV infusions of enzyme replacement therapy in patients with CLN2 disease have been developed to implement measures in clinical practice aimed at minimizing the risk of infectious complications and damage to ICV infusion devices.

About the authors

Svetlana V. Mikhaylova

N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Author for correspondence.
Email: svetychvital@mail.ru
ORCID iD: 0000-0002-2115-985X

Russian Children’s Clinical Hospital 

Russian Federation, 117 Leninskiy Prospekt, Moscow 119571

V. S. Lobanova

Morozovskaya Children’s City Clinical Hospital of the Moscow Healthcare Department; Svt. Luka’s Institute of Child Neurology and Epilepsy

Email: svetychvital@mail.ru
ORCID iD: 0000-0002-3764-2766
Russian Federation, 1 / 9 4-yy Dobryninskiy Pereulok, Moscow 119049; 5, 8 Nagornaya St., Troitsk, Moscow 108842

D. A. Reshchikov

N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: svetychvital@mail.ru
ORCID iD: 0000-0001-8146-5501

Russian Children’s Clinical Hospital 

Russian Federation, 117 Leninskiy Prospekt, Moscow 119571

P. V. Lobankin

Morozovskaya Children’s City Clinical Hospital of the Moscow Healthcare Department

Email: svetychvital@mail.ru
ORCID iD: 0009-0002-4317-904X
Russian Federation, 1 / 9 4-yy Dobryninskiy Pereulok, Moscow 119049

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