RecruitingNCT05596539
Connective Tissue
Hypophosphatasia
Also known as HPP, ALPL deficiency, phosphoethanolaminuria
Hypophosphatasia is a metabolic bone disease caused by loss-of-function variants in ALPL, encoding tissue-nonspecific alkaline phosphatase (TNSALP), resulting in defective bone and tooth mineralisation due to accumulation of natural substra
ORPHA:436 ↗Gene ALPLPrevalence Severe forms: 1 in 100,000; mild odontohypophosphatasia: more commonOnset Prenatal to adulthood depending on formGenetic — autosomal recessive (severe) or autosomal dominant (mild)
7
studies recruiting now
as of 7 Sept 2026
47
studies registered in total
as of 7 Sept 2026
6
countries with a recruiting site
as of 7 Sept 2026
5 Feb 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1 / Phase 2NCT07179640
A Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ALE1 in Healthy Adults and Adults With Hypophosphatasia in Order to Identify Suitable Doses of ALE1
RecruitingNCT07390240
The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia
RecruitingNCT02237625
Natural History Study of Patients With Hypophosphatasia (HPP)
RecruitingNCT05234567
A Prospective Sub-Study of the Global Hypophosphatasia Registry
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 7 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Hypophosphatasia study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: HPP Registry (Alexion/AstraZeneca) · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Hypophosphatasia
Hypophosphatasia is a metabolic bone disease caused by loss-of-function variants in ALPL, encoding tissue-nonspecific alkaline phosphatase (TNSALP), resulting in defective bone and tooth mineralisation due to accumulation of natural substrates including inorganic pyrophosphate and pyridoxal-5'-phosphate. Clinical severity spans from lethal perinatal disease with profound unmineralised bone to isolated premature loss of deciduous teeth in childhood or stress fractures in adulthood. Enzyme replacement therapy with asfotase alfa is approved for paediatric-onset disease, creating an important distinction for trial eligibility.
Common clinical features
Premature loss of deciduous teeth with intact roots (before age 5)Rachitic bone disease with bowing and fractures in childhoodLow or absent serum alkaline phosphatase activityElevated plasma pyridoxal-5'-phosphate (a TNSALP substrate)Respiratory failure from thoracic hypomineralisation in neonatesStress fractures and poor fracture healing in adultsSeizures responsive to pyridoxine (vitamin B6) in perinatal forms
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
4 approved treatments and 6 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Lanthanum Carbonate (Fosrenol)Approved: Calcium Acetate (Calcium acetate)Approved: Sevelamer Hydrochloride (Renagel)Approved: Asfotase Alfa (Strensiq)
Phase 3Burosumab (Crysvita)
Phase 3Efzimfotase Alfa
Phase 3Sbr-759
Phase 3Bixalomer
Phase 2Setrusumab
Phase 1Oxylanthanum Carbonate
Before you apply
Things trial teams commonly ask about for Hypophosphatasia. Not eligibility rules; those are set by each study.
- Alkaline phosphatase activity (serum ALP) and plasma PLP levels are diagnostic biomarkers required at screening — ensure these are drawn fasting and without recent vitamin B6 supplementation.
- Patients receiving asfotase alfa enzyme replacement therapy may be excluded from some trials or may qualify for different arms; disclose current and prior treatment history in detail.
- Radiographs documenting skeletal manifestations (rachitic changes, pseudofractures, or tongue-of-radiolucency at metaphyses) are commonly required as part of baseline imaging.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).