Summary of findings for the main comparison. Enzyme replacement therapy for infantile‐onset Pompe disease.
| Enzyme replacement therapy for infantile‐onset Pompe disease | ||||||
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Patient or population: infantile‐onset Pompe disease Settings: hospital in‐patient Intervention: enzyme replacement therapy at 20 mg/kg/2 weeks Control: enzyme replacement therapy 40 mg/kg/2 weeks | ||||||
| Outcomes | Illustrative comparative risks* (95% CI) | Relative effect (95% CI) | No of participants (studies) | Quality of the evidence (GRADE) | Comments | |
| Assumed risk | Corresponding risk | |||||
| Enzyme replacement therapy (40 mg/kg/2 weeks) | Enzyme replacement therapy (20 mg/kg/2 weeks) | |||||
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Cardiac function Follow‐up: 52 weeks |
No detailed information comparing the 2 dose groups. Results from initial phase of the trial described that cardiac function was similar in the 2 dose groups and long‐term alglucosidase alfa treatment (both dosing groups) improved cardiomyopathy.1 | 18 (1 RCT) | ⊕⊕⊝⊝ Low2,3 | ‐ | ||
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Time to ventilation Follow‐up: 52 weeks |
Results from the initial phase of the trial described that the proportion of children that were free of invasive ventilation was similar in the 2 dose groups.1 | 18 (1 RCT) | ⊕⊕⊝⊝ Low2,3 | ‐ | ||
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Survival Follow‐up: 52 weeks |
"Fifteen of the 18 treated patients reached the age of 18 months by the end of the study; three patients were right‐censored from this analysis because they had not reached the age of 18 months by the end of the study, although they were alive at that time (at ages 15.9 months, 17.9 months, and 14.4 months)." (Kishnani 2007). 1 participant died after receiving alglucosidase alfa for 61 weeks, but before the extension phase of the study began.1 | 18 (1 RCT) | ⊕⊕⊝⊝ Low2,3 | ‐ | ||
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Motor development Follow‐up: 52 weeks |
Results from the initial trial described that motor development was similar in the 2 dose groups. It was reported in the paper that, "13 of the 18 treated patients acquired substantial motor and functional skills as assessed by the AIMS and Pompe PEDI tests."1 | 18 (1 RCT) | ⊕⊕⊝⊝ Low2,3 | ‐ | ||
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Quality of life Follow‐up: NA |
Not reported. | 18 (1 RCT) | NA | ‐ | ||
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Infusion‐related events Follow‐up: 52 weeks |
Study population | RR 0.83 (0.40 to 1.76) | 18 (1 RCT) | ⊕⊕⊝⊝ Low2,4 | ‐ | |
| 667 per 1000 | 553 per 1000 (267 to 1000) | |||||
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Other adverse events Follow‐up: 52 weeks |
It was stated that at 52 weeks that 16/18 participants (from both dose groups) developed IgG antibodies to alglucosidase alfa, 1 of which developed inhibitory antibodies.1 | 18 (1 RCT) | ⊕⊕⊝⊝ Low2,3 | ‐ | ||
| *The basis for the assumed risk (e.g. the median control group risk across studies) is provided in footnotes. The corresponding risk (and its 95% confidence interval) is based on the assumed risk in the comparison group and the relative effect of the intervention (and its 95% CI). AIMS: Alberta Infant Motor Scale; CI: confidence interval; IgG: immunoglobulin G; NA: not applicable; Pompe PEDI: Pompe Pediatric Evaluation of Disability Inventory; RCT: randomised controlled trial; RR: risk ratio. | ||||||
| GRADE Working Group grades of evidence High quality: further research is very unlikely to change our confidence in the estimate of effect. Moderate quality: further research is likely to have an important impact on our confidence in the estimate of effect and may change the estimate. Low quality: further research is very likely to have an important impact on our confidence in the estimate of effect and is likely to change the estimate. Very low quality: we are very uncertain about the estimate. | ||||||
1 No data available by dose groups. 2 Study limitations: high risk of bias from lack of blinding and unclear risk from the method of sequence generation, downgrading the quality of evidence. 3 No numerical results available by dose group, downgrading the quality of evidence due to selective reporting. 4 95% CI 0.40 to 1.76, downgrading the quality of evidence due to imprecision.