Pubertal Development in Patients with RASopathies

Recruiting Observational Study
RASopathy
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
8 – 35
Sex
Any
Study type
Observational
Participants needed
40 (estimated)
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna · Other
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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…
Trial Locations
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Eligibility Criteria
Inclusion Criteria: * 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 Criteria: • None.
Contacts

Federica Tamburrino, MD, PhD

00390512143723

federica.tamburrino@aosp.bo.it

CONTACT