Understanding puberty in patients with RASopathies
Pubertal Development in Patients with RASopathies
This study looks at how puberty affects growth in young people with RASopathies by reviewing their medical records.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 8 Years to 35 Years |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 1 site (Bologna, Bologna) |
| Trial ID | NCT06776380 on ClinicalTrials.gov |
What this trial studies
This observational study aims to analyze pubertal development in patients with RASopathies by retrospectively collecting and examining medical records from a single center in Bologna, Italy. It focuses on the age of onset and progression of puberty, as well as its impact on growth and final stature. The study will gather demographic, medical, and growth data from patients aged 8 to 35 years who have a confirmed diagnosis of RASopathy and have completed puberty. The findings may help clarify the relationship between pubertal development and growth outcomes in this patient population.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 8 to 35 years with a molecularly confirmed diagnosis of RASopathy who have completed their pubertal development.
Not a fit: Patients who are younger than 8 years or older than 35 years, or those who have not completed pubertal development, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of how RASopathies affect growth and puberty, potentially leading to better management strategies.
How similar studies have performed: While there have been limited case series on this topic, this study represents a novel approach to understanding pubertal development in RASopathy patients.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bologna, Bologna
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Bologna, Italy (Recruiting)
Study contacts
- Principal investigator: Federica Tamburrino, MD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Study coordinator: Federica Tamburrino, MD, PhD
- Email: federica.tamburrino@aosp.bo.it
- Phone: 00390512143723
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.