Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global Hypophosphatasia (HPP) Registry
Authors' conclusion
Prior to ERT, skeletal and extraskeletal manifestations were commonly reported in children with HPP, with differences by age at first HPP manifestation and geographical region. Comprehensive assessments of children with HPP are warranted prior to ERT initiation.
Study context
- Population
- Enzyme replacement therapy (ERT)-treated children (aged <18 years) with HPP enrolled in the Global HPP Registry; pretreatment demographics and medical histories
- Participants
- 151 children
- Exposure
- Subgroups by age at first HPP manifestation and by region
- Outcome
- Pre-ERT manifestations, overall
- Follow-up
- Prior to ERT initiation
Methodological detailsGlobal HPP Registry (2015-2020)
- Global HPP Registry (2015-2020)
Main finding
As reported in the abstract
- Female
- 52.3%
- Male
- 47.7%
- Skeletal manifestations
- 67.5%
- Muscular manifestations
- 48.3%
- Constitutional/metabolic manifestations
- 47.0%
- Neurologic manifestations
- 39.7%
Observational data: associations, not effects.
Further findings
| Outcome | Values |
|---|---|
| Manifestations by age at first HPP manifestation · prior to ERT initiation | <6 months History of bone deformity 59.3% · Respiratory failure 38.3% · 6 months to 18 years Early loss of primary teeth 62.3% · Gross motor delay 41.0% |
| Manifestations by geographic region · prior to ERT initiation | Japan Female 63.0% · Male 37.0% · Skeletal manifestations (highest) 80.4% · Europe Muscular manifestations (highest) 70.7% · USA/Canada Skeletal manifestations 57.4% · Muscular manifestations 57.4% |
Manifestations by geographic region · prior to ERT initiation
- Japan had a younger median age overall and the highest proportion of growth impairment
Original publication
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry. Horm Res Paediatr. Published 13 July 2023. doi:10.
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