Actively Recruiting

All Genders
NCT07390240

The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia

Led by AstraZeneca · Updated on 2026-04-14

55

Participants Needed

4

Research Sites

78 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

The effect of monoallelic variants in the ALPL gene on the natural course of hypophosphatasia (HPP) in children and adults in Russia (ATLANTIS)

CONDITIONS

Official Title

The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

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.
Not Eligible

You will not qualify if you...

History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety

AI-Screening

AI-Powered Screening

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Trial Site Locations

Total: 4 locations

1

Research site

Moscow, Russia

Completed

2

Research Site

Moscow, Russia

Actively Recruiting

3

Research Site

Rostov-on-Don, Russia

Actively Recruiting

4

Research site

Saint Petersburg, Russia

Actively Recruiting

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Research Team

A

AstraZeneca Clinical Study Information Center

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia | DecenTrialz