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
31 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official 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, inclusive
- Molecularly confirmed clinical diagnosis of RASopathy
- Complete pubertal development
- Informed consent obtained for participation and data processing
You will not qualify if you...
- None
AI-Screening
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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
CONTACT
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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