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

Официальное название

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

Обзор

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

Подробное описание

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

Первичные конечные точки

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

Критерии участия

Критерии включения

• 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.

Критерии исключения

• 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Россия · 4 центра

• Research site — Moscow
• Research Site — Moscow
• Research Site — Rostov-on-Don
• Research site — Saint Petersburg

Идентификаторы

NCT: NCT07390240 · D8400R00003

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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