Pubertal Development in Patients with RASopathies
IRCCS Azienda Ospedaliero-Universitaria di Bologna
40 participants
Jul 25, 2024
OBSERVATIONAL
Conditions
Summary
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.
Eligibility
Inclusion Criteria4
- 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.
Exclusion Criteria1
- None.
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Locations(1)
View Full Details on ClinicalTrials.gov
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NCT06776380