Recruiting NCT07390240

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

— Observational Hypophosphatasia

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to: Registry conditions: Hypophosphatasia. Basic parameters: No limits · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: Russia
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Official title

The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia (HPP) in Children and Adults in Russia

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

Detailed description

Non-interventional, multi-center, cohort study for evaluation of clinical and patient reported outcomes in routine care settings

(1) Mean age (in full years) at the HPP diagnosis; [Time frame: Day 0 (Visit 1)]
(2) Mean age at the onset of initial HPP symptoms (including separately any, skeletal, and non-skeletal symptoms); [Time frame: Day 0 (Visit 1)]
(3) Proportions of male and female patients [Time frame: Day 0 (Visit 1)]
(4) Proportions of adults and children at baseline (childhood- and adult-onset HPP); [Time frame: Day 0 (Visit 1)]
(5) Proportion of patients with a family history of HPP in a first-degree relative [Time frame: Day 0 (Visit 1)]
(6) Proportions of patients with specific skeletal and non-skeletal manifestation locations/sites affected at baseline: [Time frame: Day 0 (Visit 1)]
(7) Proportions of patients with history and/or presence of specific skeletal manifestations at baseline: [Time frame: Day 0 (Visit 1)]
(8) Proportions of patients with history and/or presence of specific dental manifestations at baseline: [Time frame: Day 0 (Visit 1)]
(9) Proportions of patients with history and/or presence of specific muscular manifestations at baseline: [Time frame: Day 0 (Visit 1)]
(10) Proportions of patients with history and/or presence of specific rheumatologic manifestations at baseline: [Time frame: Day 0 (Visit 1)]

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:

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.

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Russia · 4 centers

NCT: NCT07390240 · D8400R00003