Actively Recruiting
The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia (HPP) in Children and Adults in Russia
Led by AstraZeneca · Updated on 2026-05-15
55
Participants Needed
4
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying the effect of single-copy (monoallelic) changes in the ALPL gene on the natural course of hypophosphatasia (HPP), a rare bone disease, in children and adults in Russia. This observational, multi-center cohort study aims to evaluate clinical outcomes and patient-reported experiences in routine care settings without introducing new treatments. The study collects detailed information to better understand how these gene variants influence HPP over time. Participants will be observed during routine medical visits where data such as symptoms, medical history, genetic results, and various clinical assessments will be recorded. This includes evaluating skeletal, dental, muscular, neurological, and other related manifestations, as well as laboratory and radiologic findings. There is no treatment intervention; instead, the study gathers comprehensive clinical data to follow the disease's natural progression. During the study, participants will undergo assessments including physical exams, questionnaires on quality of life and physical activity, functional tests like the 6-Minute Walk Test and Chair-Rise Test, and review of hospitalizations and previous treatments. Researchers will analyze many measures such as age at diagnosis, symptom onset, genetic mutations, and disability levels. The study is planned to start in late 2025 and continue through mid-2027, with follow-up visits to monitor the course of HPP in enrolled patients.
CONDITIONS
Brief 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...
- Age 4 to less than 18 years, or 18 years and older at enrollment
- Signed informed consent form for patients 18 years and older, or legal representatives (parents) for patients aged 4 to less than 18 years
- Written informed assent for patients aged 14 to less than 18 years
- No history of enzyme-replacement therapy for hypophosphatasia
- Confirmed diagnosis of hypophosphatasia by low alkaline phosphatase activity on at least two separate tests and identification of a monoallelic pathogenic, likely pathogenic, or uncertain variant in the ALPL gene
You will not qualify if you...
- Diagnosed with other conditions that have symptoms similar to hypophosphatasia, such as cerebral palsy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy, or acquired secondary myopathies
- Currently participating in any clinical study (except non-interventional studies)
- Homozygous or compound heterozygous mutation in the ALPL gene
- Unable to attend follow-up visits or complete required follow-up studies
- Pregnant or breastfeeding women
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to approximately 5 years until study completion
Participants who undergo routine care are observed to evaluate clinical and patient reported outcomes related to hypophosphatasia.
1 baseline visit
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
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
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here