The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia
ConditionHypophosphatasia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorAstraZeneca
About this trial
The effect of monoallelic variants in the ALPL gene on the natural course of hypophosphatasia (HPP) in children and adults in Russia (ATLANTIS)
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Age ≥4 to <18 years, or ≥18 years at the time of enrollment;
Signed ICF for patients ≥18 years, or legal representatives (parents) of patients aged ≥4 to <18 years;
Written informed assent (for patients aged ≥14 to <18 years only);
No history of HPP treatment with enzyme-replacement therapy;
Disqualifiers
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;
Current participation in any clinical study (patients participating in other non interventional studies may be included);
Homozygous or compound heterozygous mutation in the ALPL gene;
Monoallelic pathogenic, likely pathogenic, or variant of uncertain significance in the ALPL gene in the absence of clinically relevant manifestations of HPP at the time of screening and/or in medical history consistent with the inclusion criterion #5;
Trial population
This multicenter observational study will include 70 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 20 clinical centres in different regions of Russia. 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.
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
(1) Mean age (in full years) at the HPP diagnosis;
In order to achieve the primary objectives, the following variables will be estimated
Time frame
Day 0 (Visit 1)2
(2) Mean age at the onset of initial HPP symptoms (including separately any, skeletal, and non-skeletal symptoms);
In order to achieve the primary objectives, the following variables will be estimated
Time frame
Day 0 (Visit 1)3
(3) Proportions of male and female patients
In order to achieve the primary objectives, the following variables will be estimated
Time frame
Day 0 (Visit 1)4
(4) Proportions of adults and children at baseline (childhood- and adult-onset HPP);
In order to achieve the primary objectives, the following variables will be estimated
Time frame
Day 0 (Visit 1)Sponsors and contacts
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Source ClinicalTrials.gov