RecruitingNot Applicable

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

Russia55 participantsStarted 2025-12-29

Plain-language summary

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

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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;
. Diagnosis of HPP confirmed by:

Exclusion criteria

. 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;
. Сurrent participation in any clinical study (patients participating in other non interventional studies may be included);
. Homozygous or compound heterozygous mutation in the ALPL gene
. In the opinion of the investigator, the patient is not able to return for follow-up visits or obtain required follow-up studies.
. Pregnant and breastfeeding women.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

(3) Proportions of male and female patients

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

Trial details

NCT IDNCT07390240

SponsorAstraZeneca

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2027-06-30

Contact for this trial

AstraZeneca Clinical Study Information Center

1-877-240-9479 information.center@astrazeneca.com

View on ClinicalTrials.gov More Hypophosphatasia trials

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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;
. Diagnosis of HPP confirmed by:

Exclusion criteria

. 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;
. Сurrent participation in any clinical study (patients participating in other non interventional studies may be included);
. Homozygous or compound heterozygous mutation in the ALPL gene
. In the opinion of the investigator, the patient is not able to return for follow-up visits or obtain required follow-up studies.
. Pregnant and breastfeeding women.

What they're measuring

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

(3) Proportions of male and female patients

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)

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

Timeframe: Day 0 (Visit 1)