Actively Recruiting
Pubertal Development in Patients with RASopathies
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2025-01-15
40
Participants Needed
1
Research Sites
4 weeks
Total Duration
On this page
AI-Summary
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.
CONDITIONS
Brief Title
Pubertal Development in Patients with RASopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
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 - Retrospective data collection from birth to completed puberty
Participants who have completed pubertal development have their medical records reviewed to collect demographic, growth, pubertal, and treatment data.
No visits required; data are collected from medical records
Trial Site Locations
Total: 1 location
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy, 40138
Actively Recruiting
Research Team
F
Federica Tamburrino, MD, PhD
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
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