Study on Pubertal Development and Growth in Patients Aged 8 to 35 Years with Molecularly Confirmed RASopathies

What this Trial Is About

This research aims to improve understanding of pubertal development in patients with RASopathies, a group of genetic conditions affecting growth and development. The study focuses on describing the age when puberty starts, how it progresses in both males and females, and how puberty influences growth and final adult height. It also compares growth patterns between patients treated with growth hormone and those who are not. The study gathers data retrospectively from medical records of patients with a confirmed molecular diagnosis of RASopathy who have completed puberty. This includes collecting demographic information, prenatal history, medical and pubertal history, organ involvement, clinical evaluations of height and weight, growth rates, growth hormone treatment details, radiological assessments, laboratory tests, and genetic testing results. Patients are treated according to usual clinical practice as this is an observational study. Participants medical records will be reviewed to collect data on pubertal onset, hormone levels, peak growth rates, and statural gain during puberty. Researchers will measure outcomes like age at puberty onset, hormone concentrations, growth velocity, and final height. The study is conducted at a specialized regional center and involves patients aged 8 to 35 years with complete pubertal development. The study started in July 2024 and is expected to end in February 2025.

Pubertal Development in Patients with RASopathies