Early higher dosage of alglucosidase alpha in classic Pompe disease
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Marco Spada
Abstract
Background
With conventional enzyme replacement therapy (ERT), the clinical prognosis of classic Pompe disease is often unsatisfactory. About half the patients treated with ERT at the recommended dosage (20 mg/kg every other week) require ventilatory support within the first years of life. The heterogeneous response to ERT has been related to different factors, including cross-reactive immunologic material (CRIM) status and age at ERT initiation. Early treatment with a standard dosage of ERT improves clinical outcome and avoids mechanical ventilation in CRIM-positive patients detected at newborn screening, not preventing persistent hyperCKemia and muscle weakness. Later treatment with higher dosages of ERT was shown to provide similar benefits in CRIM-positive patients. Here, we report the clinical and biochemical outcomes of six patients with classic Pompe disease treated with different dosages of alglucosidase alpha at different ages.
Methods
A standard dosage of ERT was employed in five patients, sharing a poor prognosis after transient clinical improvements, even in the case of early treatment (four died at 22.2±11.9 months and one survived but required tracheostomy and gastrostomy). Early higher dosage of alglucosidase alpha (40 mg/kg/week from 14 days) was administered to one CRIM-positive patient with fetal persistent bradycardia.
Results
Early higher dosage of alclucosidase alpha not only achieved normal neuromotor development but also the full correction of biochemical markers of muscle damage until 3 years of age, an unmet target with the standard dosage. Speech delay was not prevented by this approach.
Conclusions
We suggest that early treatment with a higher dosage of ERT may further improve clinical prognosis in classic Pompe disease.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)
- Assessment of dental caries and gingival status among a group of type 1 diabetes mellitus and healthy children of South India – a comparative study
- Early adiposity rebound in patients with Prader-Willi syndrome
- Arterial stiffness as a measure of cardiovascular risk in obese adolescents and adolescents with diabetes type 1
- Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
- Do parents of children with metabolic diseases benefit from the Triple P – Positive Parenting Program? A pilot study
- Early higher dosage of alglucosidase alpha in classic Pompe disease
- Insulin resistance in children with familial hyperlipidemia
- Insulin resistance linked to subtle myocardial dysfunction in normotensive Turner syndrome young patients without structural heart diseases
- Acetylcholinesterase activity and bone biochemical markers in premature and full-term neonates
- Baseline characteristics of gender dysphoric youth
- Case Reports
- Multi-disciplinary evaluation of a 5-month-old with hypertrophic cardiomyopathy related to a functional adrenocortical tumor
- A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma
- Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)
- Assessment of dental caries and gingival status among a group of type 1 diabetes mellitus and healthy children of South India – a comparative study
- Early adiposity rebound in patients with Prader-Willi syndrome
- Arterial stiffness as a measure of cardiovascular risk in obese adolescents and adolescents with diabetes type 1
- Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
- Do parents of children with metabolic diseases benefit from the Triple P – Positive Parenting Program? A pilot study
- Early higher dosage of alglucosidase alpha in classic Pompe disease
- Insulin resistance in children with familial hyperlipidemia
- Insulin resistance linked to subtle myocardial dysfunction in normotensive Turner syndrome young patients without structural heart diseases
- Acetylcholinesterase activity and bone biochemical markers in premature and full-term neonates
- Baseline characteristics of gender dysphoric youth
- Case Reports
- Multi-disciplinary evaluation of a 5-month-old with hypertrophic cardiomyopathy related to a functional adrenocortical tumor
- A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma
- Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome
