RASopathy3717NCT06355622
Prevalence and Characterization of Pain in RASopathies
A study testing Characterization of pain in people with RASopathy and Costello Syndrome, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome
- What is being tested?
- Characterization of pain
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 1 siteItaly
- Study dates
- 27 Jan 2021to 30 Jun 2025
- Phase
- Interventional
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- All individuals with clinical and molecularly confirmed diagnosis of a RASopathy
Who cannot join
- Individuals with a RASopathy con confirmed by genetic analysis
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
Roma, 00168
Chiara Leoni, MD, PhD, 0039063381344, chiara.leoni@policlinicogemelli.it
About this study
Official title: Pain in RASopathies: New Investigative Techniques and Possible Treatments
RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals.
Read the detailed description
To detect prevalence and characteristics of pain in RASopathies by using scales, questionnaires, biochemical analysis and neurophysiological assessment tests.
- Being tested
- Characterization of pain
- Medical subject headings
- Costello Syndrome, Cardiofaciocutaneous syndrome, Noonan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Characterization of painDiagnostic test
Standardized scales and questionnaires to detect and characterize pain, blood sample for pain biomarkers, neurophysiological tests
| Study group | Role | What they receive |
|---|---|---|
| Case group | Experimental | Detection and characterization of pain by clinical evaluations, biochemical analysis and instrumental tests Receives: Diagnostic Test: Characterization of pain |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of pain in verbal patients with RASopathies
To detect the prevalence of pain in verbal patients with RASopathies by using VAS (visual analogue scale) or NRS (numeric rating sclae). Both scales include a range from 0 to 10 where 0 represents no pain, 1-3 range represents mild pain, 4-6 range represents moderate pain and 7-10 range represents severe pain.
Measured: 2 years
Prevalence of Pain in no-communitating patients with RASopathies
To detect the prevalence of pain in no-communicating patients with RASopathies by using FLACC scale. The FLACC Scale includes 5 behavioral categories: facial expression, leg movement, bodily activity, cry or verbalization, and consolability. The parents rated their child's pain at its worst within the preceding 24 h in each category on a scale of 0 to 2, thus an overall pain score ranging from 0 to 10.
Measured: 2 years
Secondary outcomes (1)
Characterization of pain in RASopathies
To detect pain location (one site or multiple body sites) by showing a body map (front and back)
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Apr 2024
- Study start27 Jan 2021
- Primary completion30 Jan 2024
- Study completion30 Jun 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.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Chiara Leoni, MD, PhD, Principal investigator, Fondazione Policlinico A. Gemelli, IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06355622
- Sponsor's protocol ID
- 3717
- Acronym
- 3717
- Status last verified
- Mar 2024
- First submitted
- 27 Feb 2023
- Last updated
- 21 Mar 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 21 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pain in RASopathies: New Investigative Techniques and Possible Treatments
- ClinicalTrials.gov ID
- NCT06355622
- Acronym / sponsor ID
- 3717 / 3717
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 27 Jan 2021 (actual)
- Primary completion
- 30 Jan 2024 (actual)
- Study completion
- 30 Jun 2025 (estimated)
- First posted
- 9 Apr 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.
RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals.
Detailed description
To detect prevalence and characteristics of pain in RASopathies by using scales, questionnaires, biochemical analysis and neurophysiological assessment tests.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Case group | Experimental | Diagnostic Test: Characterization of painDetection and characterization of pain by clinical evaluations, biochemical analysis and instrumental tests |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- All individuals with clinical and molecularly confirmed diagnosis of a RASopathy
Key exclusion criteria (1 listed)
- Individuals with a RASopathy con confirmed by genetic analysis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Characterization of painStandardized scales and questionnaires to detect and characterize pain, blood sample for pain biomarkers, neurophysiological tests | Diagnostic test | Case group |
Primary outcome
Prevalence of pain in verbal patients with RASopathies
Time frame: 2 years
To detect the prevalence of pain in verbal patients with RASopathies by using VAS (visual analogue scale) or NRS (numeric rating sclae). Both scales include a range from 0 to 10 where 0 represents no pain, 1-3 range represents mild pain, 4-6 range represents moderate pain and 7-10 range represents severe pain.
Prevalence of Pain in no-communitating patients with RASopathies
Time frame: 2 years
To detect the prevalence of pain in no-communicating patients with RASopathies by using FLACC scale. The FLACC Scale includes 5 behavioral categories: facial expression, leg movement, bodily activity, cry or verbalization, and consolability. The parents rated their child's pain at its worst within the preceding 24 h in each category on a scale of 0 to 2, thus an overall pain score ranging from 0 to 10.
1 secondary outcome
Characterization of pain in RASopathies
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Mar 2025.
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Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
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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.
Chiara Leoni, MD, PhD principal investigator
Fondazione Policlinico A. Gemelli, IRCCS
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Characterization of pain in people with RASopathy and Costello Syndrome, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS 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 1 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: status not confirmed, as of the sponsor's last update on 21 Mar 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Chiara Leoni, MD, PhD (0039063381344, chiara.leoni@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of pain in verbal patients with RASopathies (time frame: 2 years). The study lists 2 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 21 Mar 2025.