New study tracks rare bone disease to unlock clues for better diagnosis

NCT ID NCT07390240

Knowledge-focused Sponsor: AstraZeneca Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jul 21, 2026 · Updated 4 times

Summary

This 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 gather information that could improve future diagnosis and care.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to: If successful, this study could help doctors recognize and diagnose HPP earlier, improving care for patients.
What could go wrong: This is an observational study, not a treatment trial, so it won't directly help participants. Results may not apply to people outside Russia.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 55 people

The number the study aims to enrol. It can still change while the study runs.

Started

Dec 2025

Expected to finish

Jun 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

This multicenter observational study will include 55 paediatric and adult patients newly diagnosed with HPP who carry monoallelic variants in the ALPL gene and are monitored by physicians of various specialties at 5 clinical centers in Moscow and Saint Petersburg, Russian Federation. For inclusion to this study, patients should have a documented history of at least 2 reduced alkaline phosphatase (ALP) values relative to age- and sex-specific reference range measured on separate occasions and an HPP diagnosis, but no history of enzyme-replacement therapy. The specific study inclusion and exclusion criteria are described in the sections below.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion criteria: 1. Age ≥4 to \<18 years, or ≥18 years at the time of enrollment; 2. Signed ICF for patients ≥18 years, or legal representatives (parents) of patients aged ≥4 to \<18 years; 3. Written informed assent (for patients aged ≥14 to \<18 years only); 4. No history of HPP treatment with enzyme-replacement therapy; 5. Diagnosis of HPP confirmed by: * reduced alkaline phosphatase (ALP) activity relative to age- and sex-specific reference ranges, confirmed by at least two separate measurements, AND * the identification of a monoallelic pathogenic, likely pathogenic, or variant of uncertain significance in the ALPL gene on genetic testing. Exclusion Criteria: 1. Confirmed conditions presenting with clinical features overlapping with HPP, including but not limited to: cerebral palsy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy (Erb-Roth dystrophy), acquired secondary myopathies of various etiologies; 2. Сurrent participation in any clinical study (patients participating in other non interventional studies may be included); 3. Homozygous or compound heterozygous mutation in the ALPL gene 4. In the opinion of the investigator, the patient is not able to return for follow-up visits or obtain required follow-up studies. 5. Pregnant and breastfeeding women.

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Conditions

The condition(s) this trial relates to.

hypophosphatasia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Hypophosphatasia

How to take part

Only the study team decides who joins. These are the ways to reach them.

The places running it

3 sites. The list below names each one and where it is.
The official record

ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

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A doctor treating you

A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

New study tracks rare bone disease to unlock clues for better diagnosis

What the study statuses mean