Hypophosphatasia
MONDO:0018570Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).
Also known as: HPP, Rathburn disease, deficiency of alkaline phosphatase (disorder) [ambiguous], phosphoethanolaminuria, childhood hypophosphatasia, hypophospatasia, childhood, hypophosphatasia mild, phosphoethanol-aminuria
13 clinical trials for this condition and its sub-types.
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Broader categories
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New pill could ease rare bone disease
Disease control Recruiting nowThis early-stage trial tests an oral drug called ALE1 for hypophosphatasia (HPP), a rare genetic bone disease. The study will first check safety and how the drug moves through the body in healthy volunteers, then in adult HPP patients. It is a small, placebo-controlled study to f…
Phase: PHASE1, PHASE2 • Sponsor: Alesta Therapeutics • Aim: Disease control
Last updated Aug 05, 2026 00:00 UTC
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New study aims to cut diagnostic delays for rare bone disease
Knowledge-focused Recruiting nowThis study follows 130 adults with hypophosphatasia, a rare bone disorder, to understand how they are diagnosed and what symptoms they have. Researchers hope to find ways to reduce the long delay between first symptoms and diagnosis. No treatment is being tested; this is purely a…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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New study tracks rare bone disease to unlock clues for better diagnosis
Knowledge-focused Recruiting nowThis study is observing 55 children and adults in Russia who have hypophosphatasia (HPP), a rare genetic bone disease. Researchers will track symptoms, lab results, and quality of life to learn how the disease naturally progresses. No treatments are being tested—the goal is to ga…
Sponsor: AstraZeneca • Aim: Knowledge-focused
Last updated Jul 22, 2026 00:00 UTC
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Scientists launch largest-ever natural history study for rare bone disease hypophosphatasia
Knowledge-focused Recruiting nowThis study follows 200 children and adults with hypophosphatasia (HPP), a rare genetic disorder that weakens bones and teeth. Researchers will collect medical history, track disease progression, and assess quality of life over time. The goal is to better understand how HPP affect…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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Could your body fight back against this rare disease drug?
Knowledge-focused Recruiting nowThis study follows 30 people with hypophosphatasia (HPP) who are taking the drug asfotase alfa. Researchers want to see if the immune system can make the drug less effective or cause serious allergic reactions. Participants will be monitored for at least 5 years to track these ri…
Sponsor: Alexion Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC