Hypophosphatemic rickets
MONDO:0024300Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Also known as: Phosphopenic rickets, hypophosphatemic rickets, acquired vitamin D resistant rickets, acquired vitamin D-resistant rickets, Ricket, hypophosphatemic, hypophosphatemia, vitamin D-resistant rickets, hypophosphatemic Ricket, hypophosphatemic vitamin D resistant rickets
18 clinical trials for this condition and its sub-types.
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Broader categories
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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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Can medical records unlock the secrets of rare calcification diseases?
Knowledge-focused CompletedThis study looks back at medical records of people with two rare genetic conditions—ENPP1 deficiency and the early-onset form of ABCC6 deficiency—to map how these diseases progress over time. By collecting information on symptoms, imaging, and growth, researchers hope to better u…
Sponsor: Inozyme Pharma • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Rare disease mystery: scientists track GACI and ARHR2 to unlock clues
Knowledge-focused CompletedThis completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 18, 2026 00:00 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
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Rare disease detectives: new study maps how two genetic conditions unfold in children
Knowledge-focused CompletedThis study follows children aged 2 to 18 with confirmed ENPP1 deficiency or early-onset ABCC6 deficiency to understand how these rare diseases progress. Researchers will measure blood markers, check for calcification in arteries and organs, and track bone health and movement over…
Sponsor: Inozyme Pharma • Aim: Knowledge-focused
Last updated Jul 08, 2026 00:00 UTC