RASopathyNCT06776380
Pubertal Development in Patients with RASopathies
An observational study of RASopathy, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 8 to 35 years
- Conditions the study is for
- RASopathy
- How many people
- 40 participants
- Where
- 1 siteItaly
- Study dates
- 25 Jul 2024to 28 Feb 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 35 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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.
Who cannot join
- None.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, 40138
Federica Tamburrino, MD, PhD, 00390512143723, federica.tamburrino@aosp.bo.it
Federica Tamburrino, Md, PhD
About this study
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.
Read the 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.
- Conditions
- RASopathy
- Keywords
- RASopathy
What is being measured
The primary outcome is the main question the study is designed to answer.
Age of pubertal onset in males and females in all different genotypes
years, months
Measured: at baseline
Proportion of males and females with delayed puberty in all different genotypes
percentage %
Measured: 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
Measured: at baseline
Age at time of presence of dosable serum estradiol (>15 pg/ml) in females in all different genotypes
years, months
Measured: at baseline
Age at time of presence of dosable serum testosterone (>0,2 ng/ml) in males in all different genotypes
years, months
Measured: at baseline
Age of reaching Peak Height Velocity in males and females in all different genotypes
years, months
Measured: at baseline
Statural gain at puberty in males and females in all different genotypes
cm
Measured: at baseline
Peak Height Velocity in males and females in all different genotypes
cm/year
Measured: at baseline
Secondary outcomes (3)
Height at first evaluation, final height, and statural gain at puberty in GH-treated and non-treated patients
cm
Measured: at baseline
Peak Height Velocity in GH-treated and non-treated patients
cm/year
Measured: at baseline
Age of reaching Peak Height Velocity in GH-treated and non-treated patients
years, months
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jan 2025
- Study start25 Jul 2024
- Primary completion31 Jan 2025 (estimated)
- Study completion28 Feb 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RASopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Federica Tamburrino, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06776380
- Sponsor's protocol ID
- SN_PUBERTA2023
- Status last verified
- Oct 2024
- First submitted
- 3 Dec 2024
- Last updated
- 15 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pubertal Development in Patients with RASopathies
- ClinicalTrials.gov ID
- NCT06776380
- Acronym / sponsor ID
- SN_PUBERTA2023
- Conditions
- RASopathy
- Keywords
- RASopathy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 25 Jul 2024 (actual)
- Primary completion
- 31 Jan 2025 (estimated)
- Study completion
- 28 Feb 2025 (estimated)
- First posted
- 15 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 8 to 35 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- None.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Age of pubertal onset in males and females in all different genotypes
Time frame: at baseline
years, months
Proportion of males and females with delayed puberty in all different genotypes
Time frame: 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
Time frame: at baseline
years, months
Age at time of presence of dosable serum estradiol (>15 pg/ml) in females in all different genotypes
Time frame: at baseline
years, months
Age at time of presence of dosable serum testosterone (>0,2 ng/ml) in males in all different genotypes
Time frame: at baseline
years, months
Age of reaching Peak Height Velocity in males and females in all different genotypes
Time frame: at baseline
years, months
Statural gain at puberty in males and females in all different genotypes
Time frame: at baseline
cm
Peak Height Velocity in males and females in all different genotypes
Time frame: at baseline
cm/year
3 secondary outcomes
Height at first evaluation, final height, and statural gain at puberty in GH-treated and non-treated patients
Time frame: at baseline
Peak Height Velocity in GH-treated and non-treated patients
Time frame: at baseline
Age of reaching Peak Height Velocity in GH-treated and non-treated patients
Time frame: at baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jan 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Federica Tamburrino, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of RASopathy, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Federica Tamburrino, MD, PhD (00390512143723, federica.tamburrino@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Age of pubertal onset in males and females in all different genotypes (time frame: at baseline). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jan 2025.