X-Linked Hypophosphataemia — Research Summary
Printed from RareWays (rareways.com.au) on 18 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Diagnosis and management of X-linked hypophosphatemia in dental practice: A scoping review.
Roskamp Liliane et al. — Bone (1 November 2026)
https://pubmed.ncbi.nlm.nih.gov/42409089/
- 2.
Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia.
Su Tongyu et al. — Archives of oral biology (1 November 2026)
https://pubmed.ncbi.nlm.nih.gov/42612326/
- 3.
Medical treatment of adult patients with X-linked hypophosphatemia.
Fukumoto Seiji — Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (16 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42747391/
- 4.
Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study.
Böckmann Ineke et al. — Calcified tissue international (16 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42747563/
- 5.
Chronic hypophosphatemia leading to the diagnosis of autosomal recessive hypophosphatemic rickets type 2 caused by a novel pathogenic variant in ENPP1.
Tsai Peihsuan et al. — Bone (14 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42735739/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency
Active (not recruiting) — Phase 3 — Inozyme Pharma
https://clinicaltrials.gov/study/NCT06046820
- 2.
Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH
Completed — Phase 3 — Kyowa Kirin, Inc.
https://clinicaltrials.gov/study/NCT02915705
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
X-Linked Hypophosphataemia
X-linked hypophosphataemia is a rare inherited bone condition caused by changes in the PHEX gene, which lead the kidneys to lose too much phosphate. Low phosphate softens the bones, causing rickets, bowed legs, short stature, dental abscesses and bone or joint pain. Care may include phosphate and active vitamin D supplements or a targeted antibody therapy, along with dental, orthopaedic and physiotherapy support.
Most Recent Research
X-linked hypophosphatemia (XLH) is a PHEX-related disorder causing elevated FGF23, chronic hypophosphatemia, and impaired skeletal and dental mineralization, leading to frequent endodontic abscess in clinically sound teeth due to intrinsic structural failure, periapical lesions and early tooth loss. To address the lack of standardized oral management, a comprehensive literature review was conducted using EMBASE, MEDLINE, PubMed, Scopus, and Cochrane databases (1988-2024), adhering to PRISMA-ScR guidelines. Based on this evidence, multidisciplinary recommendations were developed to provide diagnostic and therapeutic strategies across dental specialties, including periodontics, endodontics, surgery, orthodontics, and restorative dentistry. The review describes specific clinical and radiographic diagnostic criteria and proposes preventive interventions and minimally invasive treatment planning. Key recommendations highlight that interdisciplinary management is critical to reducing complications and improving long-term oral health. Dentists should recognize XLH's characteristic dental manifestations to ensure timely diagnosis. Implementing these evidence-based strategies may enhance prevention, reduce endodontic complications, and significantly improve the quality of life in affected patients. LAY SUMMARY: X-Linked Hypophosphatemia (XLH) is a genetic condition that weakens bones and teeth. Patients often suffer from tooth infections (abscesses) and lose teeth early because their dental structure is fragile. This study reviewed dental research from 1988 to 2024 to identify the best ways to care for these patients. We developed evidence-based recommendations to help dentists diagnose the disease early and use specific treatments to prevent complications. These strategies aim to reduce pain and tooth loss, significantly improving the quality of life for people living with XLH.
Common Questions
What is X-Linked Hypophosphataemia?
X-linked hypophosphataemia is a rare inherited bone condition caused by changes in the PHEX gene, which lead the kidneys to lose too much phosphate. Low phosphate softens the bones, causing rickets, bowed legs, short stature, dental abscesses and bone or joint pain. Care may include phosphate and active vitamin D supplements or a targeted antibody therapy, along with dental, orthopaedic and physiotherapy support.
How many clinical trials are available for X-Linked Hypophosphataemia?
RareWays currently indexes 55 clinical trials for X-Linked Hypophosphataemia, of which 7 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for X-Linked Hypophosphataemia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for X-Linked Hypophosphataemia.
No spam. Unsubscribe any time. Not medical advice.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.