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
This trial does not accept healthy volunteersQualifiers
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 population
Patients referred to the Pediatrics Unit of the IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, between 01/01/2001 and 31/12/2023 with molecularly confirmed RASopathy and completed pubertal development.
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Age of pubertal onset in males and females in all different genotypes
years, months
Time frame
at baseline2
Proportion of males and females with delayed puberty in all different genotypes
percentage %
Time frame
at baseline3
Age at the time of the presence of dosable serum LH (≥0,1 U/L) in males and females in all different genotypes
years, months
Time frame
at baseline4
Age at time of presence of dosable serum estradiol (>15 pg/ml) in females in all different genotypes
years, months
Time frame
at baselineSecondary outcomes
1
Height at first evaluation, final height, and statural gain at puberty in GH-treated and non-treated patients
cm
Time frame
at baseline2
Peak Height Velocity in GH-treated and non-treated patients
cm/year
Time frame
at baseline3
Age of reaching Peak Height Velocity in GH-treated and non-treated patients
years, months
Time frame
at baselineSponsors and contacts
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Source ClinicalTrials.gov