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Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked
Dalal S Ali1, Reza D Mirza2, Salma Hussein1
1Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada L8S 4L8.
Insights
Burosumab may benefit children with X-linked hypophosphatemia (XLH) by improving physical health and preventing deformities, but it may also increase adverse events. More research is needed on long-term effects.
Area of Science:
- Pediatric Endocrinology
- Rare Diseases
- Genetic Disorders
Background:
- X-linked hypophosphatemia (XLH) is a rare genetic disorder affecting phosphate metabolism.
- Effective management strategies for XLH in children are crucial for optimizing long-term health outcomes.
Purpose of the Study:
- To review the existing evidence on the management of X-linked hypophosphatemia (XLH) in pediatric populations.
- To inform the development of evidence-based treatment recommendations for XLH in children.
Main Methods:
- A comprehensive literature search was conducted across major databases (Embase, MEDLINE, Web of Science, Cochrane Central) up to May 2023.
- Included studies were randomized controlled trials (RCTs) and observational studies of children (<18 years) with confirmed XLH.
- Evidence certainty was assessed using GRADE methodology, and risk of bias was evaluated.
Main Results:
- One RCT compared burosumab to conventional therapy or no treatment, revealing moderate certainty that burosumab prevents lower limb deformity and improves quality of life.
- Burosumab may increase height but also potentially increases adverse events and dental abscesses (low to moderate certainty).
- Limited, very low certainty evidence exists for conventional therapy's impact on final height.
Conclusions:
- Burosumab shows potential benefits in preventing deformities and improving quality of life in children with XLH, with possible height increases.
- However, increased adverse events associated with burosumab warrant careful consideration.
- Further research is essential to elucidate the long-term effects of medical therapies for pediatric XLH.
Objective:
To examine the evidence addressing the management of X-linked hypophosphatemia (XLH) in children to inform treatment recommendations.
Methods:
We searched Embase, MEDLINE, Web of Science, and Cochrane Central up to May 2023. Eligible studies included randomized controlled trials (RCTs) and observational studies of individuals younger than 18 years with clinically or genetically confirmed XLH. Manuscripts comparing burosumab to either no treatment or conventional therapy (phosphate and active vitamin D) or evaluating conventional therapy to no treatment were included. Two reviewers independently determined eligibility, extracted data, and assessed risk of bias (RoB). GRADE methodology was used to assess evidence certainty.
Results:
We screened 4114 records and assessed 254 full texts. One RCT and one post hoc study proved eligible when comparing burosumab to conventional therapy or no treatment. The open-label RCT was at high RoB, with certainty of evidence ranging from moderate to very low. Burosumab, compared to conventional therapy, probably prevents lower limb deformity and improves physical health quality of life (QoL) (moderate certainty). Burosumab may increase height and enhance the burden of symptoms related to chronic hypophosphatemia (low certainty). Burosumab probably increases treatment-emergent adverse events (moderate certainty) and may increase dental abscesses (low certainty). One observational study assessing conventional therapy vs no treatment was at high RoB, providing very low certainty evidence regarding the impact of conventional therapy on final height.
Conclusion:
Our review indicates that burosumab likely provides benefits to children by preventing lower limb deformity and improving physical health QoL while potentially increasing height. However, burosumab may also increase adverse events. Our review found limited evidence regarding the impact of conventional therapy compared to no treatment on final height. Further research is required to understand the long-term effect of medical therapy in children.
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