Abstract
Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is not predicted to cross the blood-brain barrier. Nearly all published experience with ERT with idursulfase has therefore been in patients without cognitive impairment (attenuated phenotype). Little formal guidance is available on the issues surrounding ERT in cognitively impaired patients with the severe phenotype. An expert panel was therefore convened to provide guidance on these issues. The clinical experience of the panel with 66 patients suggests that somatic improvements (e.g., reduction in liver volume, increased mobility, and reduction in frequency of respiratory infections) may occur in most severe patients. Cognitive benefits have not been seen. It was agreed that, in general, severe patients are candidates for at least a 6-12-month trial of ERT, excluding patients who are severely neurologically impaired, those in a vegetative state, or those who have a condition that may lead to near-term death. It is imperative that the treating physician discuss the goals of treatment, methods of assessment of response, and criteria for discontinuation of treatment with the family before ERT is initiated. Conclusion: The decision to initiate ERT in severe Hunter syndrome should be made by the physician and parents and must be based on realistic expectations of benefits and risks, with the understanding that ERT may be withdrawn in the absence of demonstrable benefits.
| Original language | English |
|---|---|
| Pages (from-to) | 181-188 |
| Number of pages | 8 |
| Journal | European Journal of Pediatrics |
| Volume | 171 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2012 |
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Keywords
- Cognitive impairment
- Enzyme replacement therapy
- Hunter syndrome
- Idursulfase
- Mucopolysaccharidosis II
- Severe phenotype
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. / Muenzer, Joseph; Bodamer, Olaf; Burton, Barbara; Clarke, Lorne; Frenking, Gudrun Schulze; Giugliani, Roberto; Jones, Simon; Rojas, Maria Verónica Muñoz; Scarpa, Maurizio; Beck, Michael; Harmatz, Paul.
In: European Journal of Pediatrics, Vol. 171, No. 1, 01.01.2012, p. 181-188.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus
AU - Muenzer, Joseph
AU - Bodamer, Olaf
AU - Burton, Barbara
AU - Clarke, Lorne
AU - Frenking, Gudrun Schulze
AU - Giugliani, Roberto
AU - Jones, Simon
AU - Rojas, Maria Verónica Muñoz
AU - Scarpa, Maurizio
AU - Beck, Michael
AU - Harmatz, Paul
PY - 2012/1/1
Y1 - 2012/1/1
N2 - Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is not predicted to cross the blood-brain barrier. Nearly all published experience with ERT with idursulfase has therefore been in patients without cognitive impairment (attenuated phenotype). Little formal guidance is available on the issues surrounding ERT in cognitively impaired patients with the severe phenotype. An expert panel was therefore convened to provide guidance on these issues. The clinical experience of the panel with 66 patients suggests that somatic improvements (e.g., reduction in liver volume, increased mobility, and reduction in frequency of respiratory infections) may occur in most severe patients. Cognitive benefits have not been seen. It was agreed that, in general, severe patients are candidates for at least a 6-12-month trial of ERT, excluding patients who are severely neurologically impaired, those in a vegetative state, or those who have a condition that may lead to near-term death. It is imperative that the treating physician discuss the goals of treatment, methods of assessment of response, and criteria for discontinuation of treatment with the family before ERT is initiated. Conclusion: The decision to initiate ERT in severe Hunter syndrome should be made by the physician and parents and must be based on realistic expectations of benefits and risks, with the understanding that ERT may be withdrawn in the absence of demonstrable benefits.
AB - Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is not predicted to cross the blood-brain barrier. Nearly all published experience with ERT with idursulfase has therefore been in patients without cognitive impairment (attenuated phenotype). Little formal guidance is available on the issues surrounding ERT in cognitively impaired patients with the severe phenotype. An expert panel was therefore convened to provide guidance on these issues. The clinical experience of the panel with 66 patients suggests that somatic improvements (e.g., reduction in liver volume, increased mobility, and reduction in frequency of respiratory infections) may occur in most severe patients. Cognitive benefits have not been seen. It was agreed that, in general, severe patients are candidates for at least a 6-12-month trial of ERT, excluding patients who are severely neurologically impaired, those in a vegetative state, or those who have a condition that may lead to near-term death. It is imperative that the treating physician discuss the goals of treatment, methods of assessment of response, and criteria for discontinuation of treatment with the family before ERT is initiated. Conclusion: The decision to initiate ERT in severe Hunter syndrome should be made by the physician and parents and must be based on realistic expectations of benefits and risks, with the understanding that ERT may be withdrawn in the absence of demonstrable benefits.
KW - Cognitive impairment
KW - Enzyme replacement therapy
KW - Hunter syndrome
KW - Idursulfase
KW - Mucopolysaccharidosis II
KW - Severe phenotype
UR - http://www.scopus.com/inward/record.url?scp=84857061064&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84857061064&partnerID=8YFLogxK
U2 - 10.1007/s00431-011-1606-3
DO - 10.1007/s00431-011-1606-3
M3 - Article
C2 - 22037758
AN - SCOPUS:84857061064
VL - 171
SP - 181
EP - 188
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
SN - 0340-6199
IS - 1
ER -