Pubertal Development in Patients with RASopathies

NCT06776380 | Recruiting

• 1 other identifier: SN_PUBERTA2023
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

RASopathy

Keywords

RASopathy

Outcome Measures

Primary Outcomes (8)

• Age of pubertal onset in males and females in all different genotypes

  years, months

  at baseline

• Proportion of males and females with delayed puberty in all different genotypes

  percentage %

  at baseline

• 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

  at baseline

• Age at time of presence of dosable serum estradiol (>15 pg/ml) in females in all different genotypes

  years, months

  at baseline

• Age at time of presence of dosable serum testosterone (>0,2 ng/ml) in males in all different genotypes

  years, months

  at baseline

• Age of reaching Peak Height Velocity in males and females in all different genotypes

  years, months

  at baseline

• Statural gain at puberty in males and females in all different genotypes

  cm

  at baseline

• Peak Height Velocity in males and females in all different genotypes

  cm/year

  at baseline

Secondary Outcomes (3)

• Height at first evaluation, final height, and statural gain at puberty in GH-treated and non-treated patients

  at baseline

• Peak Height Velocity in GH-treated and non-treated patients

  at baseline

• Age of reaching Peak Height Velocity in GH-treated and non-treated patients

  at baseline

Eligibility Criteria

• Age: 8 Years - 35 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study 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.

You may qualify if:

• 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.

You may not qualify if:

• None.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

RECRUITING

Study Officials

• Federica Tamburrino, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Federica Tamburrino, MD, PhD

CONTACT

00390512143723; federica.tamburrino@aosp.bo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 3, 2024
• First Posted: January 15, 2025
• Study Start: July 25, 2024
• Primary Completion: January 31, 2025
• Study Completion: February 28, 2025
• Last Updated: January 15, 2025

Record last verified: 2024-10

Locations

IT (1)