Идёт набор NCT06776380

Pubertal Development in Patients with RASopathies

— Наблюдательное RASopathy

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
Кому может быть актуально: Состояния в реестре: RASopathy. Базовые параметры: 8 лет — 35 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Италия
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

Retrospective, single-centre, non-profit, observational study on pubertal development in patients with RASopathies. Literature data shows that puberty can be delayed by about 2 years in patients with RASopathies and this has been associated with a reduced peak growth rate. To date, only a few numerically limited case series without molecular characterisation have been published. This descriptive study should improve knowledge of pubertal development and its influence on growth and final stature. The primary aims are to describe the age of onset and progression of pubertal development in the cohort of patients with RASopathies, both male and female, and to describe the influence of pubertal development on statural growth and final stature in the same cohort.

Подробное описание

The study enrolls patients with molecularly confirmed RASopathy and completed pubertal development who referred to the Centre for Rare Congenital-Malformative Diseases of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, between 01/01/2001 and 31/12/2023. Being a Regional Centre, it is possible to enrol a significant number of patients.

The primary aims of the study are to describe the age of onset and progression of pubertal development in this cohort of patients, and to describe the influence of pubertal development on statural growth and final stature. The secondary aim is to compare the trends of pubertal development and statural growth at puberty in GH-treated and untreated patients with RASopathies.

The study consists of the retrospective collection and analysis of anthropometric data on growth and pubertal development of the cohort of patients enrolled by consulting their medical records. More in detail, for each patient will be collected demographic data, prenatal data, personal medical history, pubertal history, organ involvement data, outpatient clinical evaluation with height, weight, and growth rate, data on GH therapy, if any, radiological assessments and laboratory tests, and the molecular RASopathy diagnosis by NGS panel and/or Sanger sequencing of target genes.

Due to the observational nature of the study, enrolled patients are treated according to clinical practice.

Первичные конечные точки

Age of pubertal onset in males and females in all different genotypes [Срок оценки: at baseline]
Proportion of males and females with delayed puberty in all different genotypes [Срок оценки: at baseline]
Age at the time of the presence of dosable serum LH (≥0,1 U/L) in males and females in all different genotypes [Срок оценки: at baseline]
Age at time of presence of dosable serum estradiol (>15 pg/ml) in females in all different genotypes [Срок оценки: at baseline]
Age at time of presence of dosable serum testosterone (>0,2 ng/ml) in males in all different genotypes [Срок оценки: at baseline]
Age of reaching Peak Height Velocity in males and females in all different genotypes [Срок оценки: at baseline]
Statural gain at puberty in males and females in all different genotypes [Срок оценки: at baseline]
Peak Height Velocity in males and females in all different genotypes [Срок оценки: at baseline]

Вторичные конечные точки (3)

Height at first evaluation, final height, and statural gain at puberty in GH-treated and non-treated patients [Срок оценки: at baseline]
Peak Height Velocity in GH-treated and non-treated patients [Срок оценки: at baseline]
Age of reaching Peak Height Velocity in GH-treated and non-treated patients [Срок оценки: at baseline]

Критерии участия

Критерии включения

Age at enrollment between 8 and 35 years, extremes included;
Molecularly confirmed clinical diagnosis of RASopathy;
Complete pubertal development;
Obtaining informed consent for participation in the study and processing of personal data.