Prevalence and Characterization of Pain in RASopathies

Pain in RASopathies: New Investigative Techniques and Possible Treatments

Status

Recruiting

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT06355622

Acronym

3717

Enrollment

150

Registered

2024-04-09

Start date

2021-01-27

Completion date

2025-06-30

Last updated

2025-03-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cardio-Facio-Cutaneous Syndrome, Costello Syndrome, Noonan Syndrome, RASopathy

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.

Interventions

DIAGNOSTIC_TESTCharacterization of pain

Standardized scales and questionnaires to detect and characterize pain, blood sample for pain biomarkers, neurophysiological tests

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

DIAGNOSTIC

Masking

NONE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

Inclusion criteria

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

Exclusion criteria

* Individuals with a RASopathy con confirmed by genetic analysis

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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)

Countries

Italy

Contacts

Primary ContactChiara Leoni, MD, PhD

chiara.leoni@policlinicogemelli.it0039063381344

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026