Pubertal Development in Patients with RASopathies
ConditionRASopathy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age8-35
SponsorIRCCS Azienda Ospedaliero-Universitaria di Bologna
About this trial
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 criteria
Qualifiers
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.
Disqualifiers
None
Trial design
Treatments tested in this trial
- Not listed
Trial groups
No trial groups listed
Sponsors and collaborators
Source ClinicalTrials.gov