RASopathyECORAS2023NCT06489067
Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023)
An observational study of RASopathy, run by University of Bari Aldo Moro at 1 site in Italy.
Trial summary
The study aims to evaluate the prevalence of thyroid disease, particularly with autoimmune pathogenesis (isolated hyperthyrotropinemia, hyperthyroidism, hypothyroidism, thyroid nodules) and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy genetically confirmed by NGS technique… Read more about this study
- Who is it for?
- Ages 3 to 25 yearsHealthy volunteers can take part
- Conditions the study is for
- RASopathy
- How many people
- 115 participants
- Where
- 1 siteItaly
- Study dates
- 15 Jan 2024to 30 Jun 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
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 3 to 25 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: patients with genetically confirmed RASopathy
Who may be able to join
- Genetically confirmed RASopathy
- Age 3-25 years
Who cannot join
- Previous radiotherapy treatments, known exposure to ionizing radiation
- Iodine deficiency
- Use of iodine-based compounds or drugs that interfere with thyroid function
- Congenital hypothyroidism/hyperthyroidism
- Severe obesity with metabolic complications
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
University of Bari
Bari, 70124
MARIA FELICIA MF FAIENZA
About this study
Official title: Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study
The study aims to evaluate the prevalence of thyroid disease, particularly with autoimmune pathogenesis (isolated hyperthyrotropinemia, hyperthyroidism, hypothyroidism, thyroid nodules) and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy genetically confirmed by NGS technique (analysis of the genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2) and to compare the data obtained in our sample with those of the general population.
The secondary aim of the study is to evaluate the association between vitamin D deficiency and/or other abnormalities of bone metabolism and thyroid disease and/or morphostructural anomalies of the thyroid gland in patients with RASopathy.
Read the detailed description
All patients will undergo blood sampling aimed at studying thyroid function and autoimmunity (TSH, fT3, fT4, anti-TPO, anti-TG, anti-TSH receptor antibodies) and biomarkers of bone metabolism (calcium, phosphorus, ALP isoenzyme bone, PTH, osteocalcin, vitamin D) and a systematic color Doppler ultrasound examination of the thyroid gland in order to evaluate dimensions, echostructure and echogenicity of the thyroid parenchyma, presence of nodular lesions, vascularization and laterocervical lymphadenopathy.
- Conditions
- RASopathy
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)
Patients will undergo blood sampling for TSH, fT3, fT4, thyroid autoimmunity and a systematic color Doppler ultrasound examination of the thyroid gland. Setting a confidence level of 95% and a margin of error of 10%, the sample size is of 96 patients. The level of statistical significance will be α=0.05. Demographic, anthropometric and clinical data will be collected according to standard criteria for each center. Continuous variables will be reported as mean and standard deviation, or median and IQR, depending on their distribution. Categorical variables will be expressed as absolute and relative frequency (%). Parametric and non-parametric statistical tests will be performed depending on the variables and their distribution. Correlation analyses will be performed between the different variables.
Measured: 6 months
Secondary outcomes (1)
Number of patients with RASopathies presenting with bone disease
Evaluate the association between vitamin D deficiency and/or bone disease and thyroid function and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy. For each patient biomarkers of bone metabolism (calcium, phosphorus, vitamin D, ALP bone isoenzyme, PTH, osteocalcin) will be evaluated in order to find a possible association with thyroid abnormalities. In order to evaluate the association between the different variables (primarily, biomarkers of bone metabolism) and the outcomes measured (thyroid dysfunction or ultrasound abnormalities), binary logistic regression models will be built, adjusting for possible confounding factors.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jul 2024
- Study start15 Jan 2024
- Primary completion30 Jun 2024
- Study completion30 Jun 2024 (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
- Case only
- Time perspective
- Other
- Enrolment
- 115 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Bari Aldo Moro
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Maria Felicia Faienza, University of Bari Aldo Moro
- Investigators
- MARIA FELICIA FAIENZA, MD, Principal investigator, University of Bari
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06489067
- Sponsor's protocol ID
- 1386/CEL
- Acronym
- ECORAS2023
- Status last verified
- Jul 2024
- First submitted
- 26 Jun 2024
- Last updated
- 5 Jul 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study
- ClinicalTrials.gov ID
- NCT06489067
- Acronym / sponsor ID
- ECORAS2023 / 1386/CEL
- Conditions
- RASopathy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 115 participants (estimated)
- Lead sponsor
- University of Bari Aldo MoroUniversity, hospital or other
- Study start
- 15 Jan 2024 (actual)
- Primary completion
- 30 Jun 2024 (actual)
- Study completion
- 30 Jun 2024 (estimated)
- First posted
- 5 Jul 2024 (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.
The study aims to evaluate the prevalence of thyroid disease, particularly with autoimmune pathogenesis (isolated hyperthyrotropinemia, hyperthyroidism, hypothyroidism, thyroid nodules) and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy genetically confirmed by NGS technique (analysis of the genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2) and to compare the data obtained in our sample with those of the general population.
The secondary aim of the study is to evaluate the association between vitamin D deficiency and/or other abnormalities of bone metabolism and thyroid disease and/or morphostructural anomalies of the thyroid gland in patients with RASopathy.
Detailed description
All patients will undergo blood sampling aimed at studying thyroid function and autoimmunity (TSH, fT3, fT4, anti-TPO, anti-TG, anti-TSH receptor antibodies) and biomarkers of bone metabolism (calcium, phosphorus, ALP isoenzyme bone, PTH, osteocalcin, vitamin D) and a systematic color Doppler ultrasound examination of the thyroid gland in order to evaluate dimensions, echostructure and echogenicity of the thyroid parenchyma, presence of nodular lesions, vascularization and laterocervical lymphadenopathy.
Study design
- Observational model
- Case only
- Time perspective
- Other
Who may qualify
- Ages
- 3 to 25 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- patients with genetically confirmed RASopathy
Key inclusion criteria (2 listed)
- Genetically confirmed RASopathy
- Age 3-25 years
Key exclusion criteria (5 listed)
- Previous radiotherapy treatments, known exposure to ionizing radiation
- Iodine deficiency
- Use of iodine-based compounds or drugs that interfere with thyroid function
- Congenital hypothyroidism/hyperthyroidism
- Severe obesity with metabolic complications
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
Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)
Time frame: 6 months
Patients will undergo blood sampling for TSH, fT3, fT4, thyroid autoimmunity and a systematic color Doppler ultrasound examination of the thyroid gland. Setting a confidence level of 95% and a margin of error of 10%, the sample size is of 96 patients. The level of statistical significance will be α=0.05. Demographic, anthropometric and clinical data will be collected according to standard criteria for each center. Continuous variables will be reported as mean and standard deviation, or median and IQR, depending on their distribution. Categorical variables will be expressed as absolute and relative frequency (%). Parametric and non-parametric statistical tests will be performed depending on the variables and their distribution. Correlation analyses will be performed between the different variables.
1 secondary outcome
Number of patients with RASopathies presenting with bone disease
Time frame: 6 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jul 2024.
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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. This study is not recruiting at the moment.
MARIA FELICIA FAIENZA, MD principal investigator
University of Bari
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 University of Bari Aldo Moro 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 2 inclusion and 5 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: status not confirmed, as of the sponsor's last update on 5 Jul 2024. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Maria Felicia Faienza (+393687667438, mariafelicia.faienza@uniba.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study) (time frame: 6 months). 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 5 Jul 2024.