Prevalence and Characterization of Pain in RASopathies (3717)

March 18, 2025 updated by: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

To detect prevalence and characteristics of pain in RASopathies by using scales, questionnaires, biochemical analysis and neurophysiological assessment tests.

Study Type

Interventional

Enrollment (Estimated)

150

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Roma, Italy, 00168
        • Recruiting
        • Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • All individuals with clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria:

  • Individuals with a RASopathy con confirmed by genetic analysis

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Case group
Detection and characterization of pain by clinical evaluations, biochemical analysis and instrumental tests
Diagnostic test: Characterization of pain
Standardized scales and questionnaires to detect and characterize pain, blood sample for pain biomarkers, neurophysiological tests

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
2 years
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.
2 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Characterization of pain in RASopathies
Time Frame: 2 years
To detect pain location (one site or multiple body sites) by showing a body map (front and back)
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Investigators

  • Principal Investigator: Chiara Leoni, MD, PhD, Fondazione Policlinico A. Gemelli, IRCCS

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 27, 2021

Primary Completion (Actual)

January 30, 2024

Study Completion (Estimated)

June 30, 2025

Study Registration Dates

First Submitted

February 27, 2023

First Submitted That Met QC Criteria

April 3, 2024

First Posted (Actual)

April 9, 2024

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

March 18, 2025

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 3717

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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