NCT06355622

Prevalence and Characterization of Pain in RASopathies

Pain in RASopathies: New Investigative Techniques and Possible Treatments

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 150 (estimated)
• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Conditions

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

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Characterization of pain	Standardized scales and questionnaires to detect and characterize pain, blood sample for pain biomarkers, neurophysiological tests

Timeline

• Start date: 2021-01-27
• Primary completion: 2024-01-30
• Completion: 2025-06-30
• First posted: 2024-04-09
• Last updated: 2025-03-21

Locations

1 site across 1 country: Italy