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

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NCT07390240 · readout in 314 d

Sponsored by AstraZeneca (industry) · AZN — their whole pipeline →.

Phase

—

Status

Recruiting

Study type

Observational

Enrollment

55estimated

Sites

Country

Russia

Every value on this page is a field the sponsor filed with ClinicalTrials.gov, reproduced. Dates are their own estimates, revised as a study runs, unless the registry marks them actual. sources →

Source: ClinicalTrials.gov, retrieved 2026-08-19

Dates

each axis at the precision it was filed, with the registry's own basis

Date

Filed

Basis

What it is

Start

2025-12-29

actual

When the study began enrolling

Primary completion

2027-06-30

estimated

The date the last participant is measured for the primary outcome — the readout window

Study completion

2027-06-30

estimated

The whole study's end, after follow-up

First posted

2026-02-05

actual

When this record first appeared on the registry

Results posted

—

When the sponsor posted results to the registry

Record updated

2026-07-20

actual

The sponsor's own last edit to this record — every projection above is as current as this date

What it studies

Condition

Hypophosphatasia

Primary outcomes

what the primary-completion date above is the date OF

(1) Mean age (in full years) at the HPP diagnosis;

measured Day 0 (Visit 1)

(2) Mean age at the onset of initial HPP symptoms (including separately any, skeletal, and non-skeletal symptoms);

measured Day 0 (Visit 1)

(3) Proportions of male and female patients

measured Day 0 (Visit 1)

(4) Proportions of adults and children at baseline (childhood- and adult-onset HPP);

measured Day 0 (Visit 1)

(5) Proportion of patients with a family history of HPP in a first-degree relative

measured Day 0 (Visit 1)

(6) Proportions of patients with specific skeletal and non-skeletal manifestation locations/sites affected at baseline:

measured Day 0 (Visit 1)

(7) Proportions of patients with history and/or presence of specific skeletal manifestations at baseline:

measured Day 0 (Visit 1)

(8) Proportions of patients with history and/or presence of specific dental manifestations at baseline:

measured Day 0 (Visit 1)

(9) Proportions of patients with history and/or presence of specific muscular manifestations at baseline:

measured Day 0 (Visit 1)

(10) Proportions of patients with history and/or presence of specific rheumatologic manifestations at baseline:

measured Day 0 (Visit 1)

(11) Proportions of patients with history and/or presence of specific renal manifestations at baseline:

measured Day 0 (Visit 1)

(12) Proportions of patients with history and/or presence of specific respiratory manifestations at baseline:

measured Day 0 (Visit 1)

(13) Proportions of patients with history and/or presence of specific neurologic / psychiatric manifestations at baseline:

measured Day 0 (Visit 1)

(14) Proportions of patients with history and/or presence of other specific manifestations at baseline:

measured Day 0 (Visit 1)

(15) Median Standard Deviation Score (SDS) for height at baseline (for patients aged <18 years at the respective timepoints only);

measured Day 0 (Visit 1)

(16) Proportion of patients with short stature at baseline (SDS for height <-2.0);

measured Day 0 (Visit 1)

(17) Proportions of patients with other non-specific comorbidities at baseline;

measured Day 0 (Visit 1)

(18) Proportions of patients with a history and/or presence of specific radiologic signs (X-ray of both hands, posteroanterior view on a single film including the distal forearms) at baseline:

measured Day 0 (Visit 1)

(19) Proportions of patients with history and/or presence of specific radiologic signs (radiography of both lower limbs, posteroanterior view on a single full-length film, including the distal lower legs) at baseline:

measured Day 0 (Visit 1)

(20) Proportions of patients with history and/or presence of specific radiologic signs on standing spine radiographs in anteroposterior and lateral views (preferably full-length) at baseline

measured Day 0 (Visit 1)

(21) Proportions of patients with history and/or presence of specific radiologic signs on skull radiographs in anteroposterior and lateral views at baseline:

measured Day 0 (Visit 1)

(22) Proportions of patients with history and/or presence of specific radiologic signs on foot radiographs in anteroposterior and lateral views (in the presence of clinical signs of a pathological "march" fracture) at baseline:

measured Day 0 (Visit 1)

(23) Median Rickets Severity Scale (RSS) at baseline (only for children ≤14 years at the respective timepoints);

measured Day 0 (Visit 1)

(24) Proportions of patients with history and/or presence of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(25) a Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(26) Proportions of patients with specific ALPL gene mutations (for each gene variant);

measured Day 0 (Visit 1)

(27) Mean and median number of fractures at baseline;

measured Day 0 (Visit 1)

(28) Mean and median number of dental losses at baseline;

measured Day 0 (Visit 1)

(29) Mean and median 6-Minute Walk Test (6MWT) distance (m) at baseline (only for patients ≥5 years);

measured Day 0 (Visit 1)

(30) Proportion of patients with decreased 6MWT distance (m) at baseline (<80% of the predicted norm, only for patients ≥5 years);

measured Day 0 (Visit 1)

(31) Mean and median Chair-Rise Test time (s) at baseline (only for patients ≥18 years);

measured Day 0 (Visit 1)

(32) Mean and median Timed Up and Go (TUG) Test time (s) at baseline (only for adults ≥18 years);

measured Day 0 (Visit 1)

(33) a Mean and median values of specific bioimpedance parameters at baseline

measured Day 0 (Visit 1)

(34) a Mean and median Rating of Perceived Exertion (RPE) score, based on Borg Scale, during the following specific tests at baseline (when the respective tests have been performed):

measured Day 0 (Visit 1)

(35) Mean and median weekly physical activity duration, measured using the International Physical Activity Questionnaire (IPAQ) Diary, at baseline

measured Day 0 (Visit 1)

(36) Mean and median Pediatric Quality of Life Inventory (PedsQL) score at baseline (only for children <18 years);

measured Day 0 (Visit 1)

(37) Proportion of patients with different levels of European Quality of Life 5 Dimensions 3-Level (EQ-5D-3L) questionnaire for each of the following dimensions at baseline

measured Day 0 (Visit 1)

(38) Mean and median EQ-5D-3L Visual Analogue Scale (VAS) score at baseline (only for adults aged ≥ 18 years);

measured Day 0 (Visit 1)

(39) Proportion of patients with different Modified Ashworth Scale (MAS) scores (0, 1, 1+, 2, 3, or 4) for each specific muscle / muscle group at baseline:

measured Day 0 (Visit 1)

(40) Proportion of patients with clinically significant spasticity (MAS score ≥2 in at least one muscle / muscle group) at baseline;

measured Day 0 (Visit 1)

(41) Mean and median dynamic component (D) measure based on the modified Tardieu Scale (MTS) on the for each specific muscle / muscle group at baseline (degrees):

measured Day 0 (Visit 1)

(42) Proportion of patients with different MTS Resistance scores (0, 1, 2, 3, 4, or 5) for each specific muscle / muscle group at baseline:

measured Day 0 (Visit 1)

(43) Proportion of patients with clonus (MTS Resistance score ≥3 in at least one muscle / muscle group) at baseline;

measured Day 0 (Visit 1)

(44) Proportion of patients with previous hospitalizations due to HPP manifestations at baseline;

measured Day 0 (Visit 1)

(45) Median number of previous hospitalizations due to HPP manifestations at baseline

measured Day 0 (Visit 1)

(46) Annualized rate of hospitalizations due to HPP manifestations prior to baseline

measured Day 0 (Visit 1)

(47) Mean and median duration of previous hospitalizations due to HPP manifestations at baseline

measured Day 0 (Visit 1)

(48) Proportions of patients with different degrees of disability according to national criteria at baseline

measured Day 0 (Visit 1)

(49) Proportions of patients who had specific previous medical interventions & surgeries at baseline:

measured Day 0 (Visit 1)

(50) Proportions of patients who previously received specific treatments at baseline:

measured Day 0 (Visit 1)

(34) b Mean and median Rating of Perceived Exertion (RPE) score, based on Borg Scale, during the following specific tests at baseline (when the respective tests have been performed):

measured Day 0 (Visit 1)

(34) c Mean and median Rating of Perceived Exertion (RPE) score, based on Borg Scale, during the following specific tests at baseline (when the respective tests have been performed):

measured Day 0 (Visit 1)

(33) b Mean and median values of specific bioimpedance parameters at baseline

measured Day 0 (Visit 1)

(33) c Mean and median values of specific bioimpedance parameters at baseline

measured Day 0 (Visit 1)

(25) b Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(25) c Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(25) d Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(25) e Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(25) f Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(25) g Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

(25) h Mean and median values of specific laboratory findings at baseline:

measured Day 0 (Visit 1)

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