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Fig 1.

Natural course of CLN2 disease.

CLN2: Neuronal ceroid lipofuscinosis type 2. Sources: Steinfeld R, et al. 2002 [6] and Nickel M, et al. 2018 [7] image.

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Table 1.

Comparison between the Hamburg Scale and Clinical Rating Scale.

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Fig 2.

Study 190-201/202 summary diagram.

a10 patients had a DE period ranging from 5–23 weeks. b14 patients enrolled directly to the 300 mg SD for 48 weeks of treatment/assessment. At the parents’ request, one patient withdrew after the receipt of one dose of the study drug owing to an unwillingness to continue with study visits and procedures; the other 23 patients completed the dosing and follow-up for Study 190–201 [9]. c23 patients continued onto Study 190–202 receiving their first dose immediately after the Week 49 assessment in Study 190–201; dData are available for all patients up to Week 49 of Study 190–202; ePatients in Study 109–202 continue treatment for up to 239 weeks. DE: dose escalation; SD: stable dose.

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Fig 3.

Scatter plots of domain scores of the Clinical Rating Scale from Study 201/202.

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Table 2.

Spearman correlation coefficients of domain scores of the Clinical Rating Scale from Study 201/202.

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Table 3.

Variance inflation factors for the domains of the Clinical Rating Scale—Study 201/202.

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Table 4.

Variance inflation factors for all pairwise domain comparisons of the Clinical Rating Scale—Study 201/202.

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Table 5.

Condition indices for the domains of the Clinical Rating Scale—Study 201/202.

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Table 6.

Results of the linear mixed effects models comparing the PedsQL to the total and ML scores of the Clinical Rating Scale.

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Table 7.

Results of the linear mixed effects models comparing the PedsQL to the domains of the Clinical Rating Scale.

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Table 8.

Results of the multivariate linear mixed effects model comparing the Motor and Language domains of the Clinical Rating Scale to the PedsQL Total score—Study 201/202.

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