5 and ≤ 12 years. Although other clinical signs improved in some of the patients monitored, statistical analysis of their variation did not reveal any significant changes following enzyme administration. The evaluation of ERT efficacy in relation to the severity of the disease evidenced slightly higher improvements as for hepatomegaly, splenomegaly, otological disorders and adenotonsillar hypertrophy in severe vs attenuated patients. Conclusions Although the present protocol of idursulfase administration may result efficacious in delaying the MPS II somatic disease progression at some extent, in this study we observed that several signs and symptoms did not improve during the therapy. Therefore, a strict monitoring of the efficacy obtained in the patients under ERT is becoming mandatory for clinical, ethical and economic reasons."/>
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Table 1 Characteristics of the patients enrolled in the study

From: Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

Patient ID Phenotype Type of mutation Age at diagnosis Age at start of ERT
Group A
A1 Severe Intragenic deletion 0.9 1.6
A2 Severe Missense 1.0 1.6
A3 Severe Missense 2.2 2.3
A4 Attenuated Small deletion 1.8 2.4
A5 Attenuated Splicing mutation 2.4 2.6
A6 Severe Small deletion 2.8 2.9
A7 Attenuated Two in cis missense 1.3 3.3
A8 Severe Missense 2.8 3.4
A9 Severe Splicing mutation 3.2 3.4
A10 Attenuated Two in cis missense n.a. 3.7
A11 Severe Missense 3.5 3.7
A12 Severe Missense 4.4 4.7
A13 Severe Missense 4.7 5.0
Group B
B1 Severe Small deletion 2.5 5.3
B2 Attenuated Nonsense n.a. 6.9
B3 Severe Missense 2.2 7.7
B4 Severe Recombination 3.1 8.0
B5 Attenuated Nonsense 4.5 9.0
B6 Severe Missense 7.1 9.2
B7 Severe Missense 7.8 11.4
Group C
C1 Severe Missense 4.3 12.7
C2 Severe Nonsense 4.0 15.8
C3 Attenuated Missense 3.8 16.3
C4 Attenuated n.i. 6.8 16.7
C5 Attenuated Missense 15.5 18.7
C6 Attenuated Missense 15.2 18.8
C7 Severe Nonsense 4.1 27.0
  1. Age at start of ERT: group A ≤5 years, group B >5 and ≤ 12 years, group C >12 years (n.i. = not identified).