2021
DOI: 10.1177/0883073821989154
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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

Abstract: Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment for neuronal ceroid lipofuscinosis (NCL) diseases. It is the first treatment where a recombinant lysosomal enzyme, cerliponase alfa, is administered into the lateral cerebral ventricles to reach the central nervous system, the organ affected in CLN2 disease. If untreated, CLN2 children show first symptoms such as epilepsy and language developmental delay at 2-4 years followed by rapid loss of m… Show more

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Cited by 9 publications
(5 citation statements)
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References 18 publications
(56 reference statements)
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“…The enzyme is administered directly to the CNS via an intra cerebro-ventricular catheter every 2 weeks. The safety of this approach is well documented by the most expert group with this procedure (173). As for its efficacy there is good evidence that disease progression is slowed down over a 4 year period, as compared with historical untreated controls (174,175).…”
Section: Complementation Therapymentioning
confidence: 99%
“…The enzyme is administered directly to the CNS via an intra cerebro-ventricular catheter every 2 weeks. The safety of this approach is well documented by the most expert group with this procedure (173). As for its efficacy there is good evidence that disease progression is slowed down over a 4 year period, as compared with historical untreated controls (174,175).…”
Section: Complementation Therapymentioning
confidence: 99%
“…Similarly, fibroblasts from patients with late-infantile NCL (CLN2) showed alterations in the FA composition of PL, including PUFA [ 86 ]. A biomarker would be extremely helpful to establish an early diagnosis in CLN2, as the early stage is uncharacteristic with single seizures and mild developmental delay, but has the option of enzyme replacement therapy (ERT) by an intraventricular device [ 87 ].…”
Section: Lipid*omic*s In Rare Diseasesmentioning
confidence: 99%
“…Reports from the literature show a low rate of device-related complications in patients with CLN2. 8,47 A retrospective evaluation of 48 patients with CLN2 receiving more than 3,000 sessions of ERT through ICV device reported an infection rate of 0.33 and 0.27% of non-infectious adverse events. 47 In the clinical trial with cerliponase α, 8% of the study population had an infection related to the device.…”
Section: Enzyme Replacement Therapymentioning
confidence: 99%
“…8,47 A retrospective evaluation of 48 patients with CLN2 receiving more than 3,000 sessions of ERT through ICV device reported an infection rate of 0.33 and 0.27% of non-infectious adverse events. 47 In the clinical trial with cerliponase α, 8% of the study population had an infection related to the device. 8 In this case, the best approach is to temporarily suspend the ERT administration, begin antibiotic treatment, and change the device (consensus; LE: 1b).…”
Section: Enzyme Replacement Therapymentioning
confidence: 99%
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