Autosomal recessive hypophosphatemic rickets
MONDO:0017324Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Also known as: ARHR, autosomal recessive hereditary hypophosphatemic rickets, hereditary hypophosphatemic rickets, autosomal recessive, hypophosphatemic rickets, autosomal recessive
5 clinical trials for this condition and its sub-types.
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Broader categories
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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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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