Actively Recruiting
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
Eligibility Criteria
You may qualify if you...
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;
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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:
- 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.
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
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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