RASopathy
Conditions
Keywords
RASopathy
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.
Detailed description
The study enrolls patients with molecularly confirmed RASopathy and completed pubertal development who referred to the Centre for Rare Congenital-Malformative Diseases of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, between 01/01/2001 and 31/12/2023. Being a Regional Centre, it is possible to enrol a significant number of patients. The primary aims of the study are to describe the age of onset and progression of pubertal development in this cohort of patients, and to describe the influence of pubertal development on statural growth and final stature. The secondary aim is to compare the trends of pubertal development and statural growth at puberty in GH-treated and untreated patients with RASopathies. The study consists of the retrospective collection and analysis of anthropometric data on growth and pubertal development of the cohort of patients enrolled by consulting their medical records. More in detail, for each patient will be collected demographic data, prenatal data, personal medical history, pubertal history, organ involvement data, outpatient clinical evaluation with height, weight, and growth rate, data on GH therapy, if any, radiological assessments and laboratory tests, and the molecular RASopathy diagnosis by NGS panel and/or Sanger sequencing of target genes. Due to the observational nature of the study, enrolled patients are treated according to clinical practice.
Interventions
None listed
Sponsors
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
8 Years to 35 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Peak Height Velocity in males and females in all different genotypes | at baseline | cm/year |
| Age at time of presence of dosable serum testosterone (>0,2 ng/ml) in males in all different genotypes | at baseline | years, months |
| Age of reaching Peak Height Velocity in males and females in all different genotypes | at baseline | years, months |
| Statural gain at puberty in males and females in all different genotypes | at baseline | cm |
| Age of pubertal onset in males and females in all different genotypes | at baseline | years, months |
| Proportion of males and females with delayed puberty in all different genotypes | at baseline | percentage % |
| Age at the time of the presence of dosable serum LH (≥0,1 U/L) in males and females in all different genotypes | at baseline | years, months |
| Age at time of presence of dosable serum estradiol (>15 pg/ml) in females in all different genotypes | at baseline | years, months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Peak Height Velocity in GH-treated and non-treated patients | at baseline | cm/year |
| Age of reaching Peak Height Velocity in GH-treated and non-treated patients | at baseline | years, months |
| Height at first evaluation, final height, and statural gain at puberty in GH-treated and non-treated patients | at baseline | cm |
Countries
Italy
Contacts
Primary ContactFederica Tamburrino, MD, PhD
Outcome results
None listed