Prevalence and Characterization of Pain in RASopathies

Not Applicable

Recruiting

• Conditions: Noonan Syndrome; RASopathy; Costello Syndrome; Cardio-Facio-Cutaneous Syndrome
• Interventions: Diagnostic Test: Characterization of pain

• Registration Number: NCT06355622
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Brief 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.

Detailed Description

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

Study Timeline

• Study Start: 2021-01-27
• Study First Submitted: 2023-02-27
• Primary Completion: 2024-01-30
• Status Verified: 2024-03
• Study First Submitted QC: 2024-04-03
• Study First Posted: 2024-04-09
• Last Update Submitted: 2025-03-18
• Last Update Posted: 2025-03-21
• Study Completion: 2025-06-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Case group	Characterization of pain	Detection and characterization of pain by clinical evaluations, biochemical analysis and instrumental tests

Primary Outcome Measures

Name	Time	Method
Prevalence of pain in verbal patients with RASopathies	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	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.

Secondary Outcome Measures

Name	Time	Method
Characterization of pain in RASopathies	2 years	To detect pain location (one site or multiple body sites) by showing a body map (front and back)

Trial Locations

Locations (1)

Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS; 🇮🇹 Roma, Italy