X-linked dominant hypophosphatemic rickets
MONDO:0010619X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
Also known as: X-linked hypophosphatemia, X-linked hypophosphatemic rickets, X-linked dominant hypophosphatemic rickets, X-linked hereditary hypophosphatemic rickets, XLH, hereditary hypophosphatemic rickets, X-linked, hypophosphatemic rickets, X-linked, hypophosphatemic rickets, X-linked dominant, X-linked dominant
10 clinical trials for this condition and its sub-types.
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Can a vitamin d pill improve bone health in rare genetic disease?
Disease control CompletedThis study tested whether giving only calcitriol (a form of vitamin D) to 16 children and adults with X-linked hypophosphatemia (XLH) could raise blood phosphate levels and improve bone growth without causing kidney stones. Participants took increasing doses of calcitriol for one…
Phase: EARLY_PHASE1 • Sponsor: Massachusetts General Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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What It's really like: teens with XLH share their journey as bones stop growing
Knowledge-focused CompletedThis study follows about 25 adolescents aged 12–17 with X-Linked Hypophosphatemia (XLH) who are being treated with burosumab and are nearing the end of their skeletal growth. Researchers will track symptoms, activity levels, and overall burden through surveys and interviews over …
Sponsor: Kyowa Kirin Pharmaceutical Development Ltd • Aim: Knowledge-focused
Last updated Jul 15, 2026 00:00 UTC