Prevalence and Characterization of Pain in RASopathies

NCT06355622 | Recruiting

• 1 other identifier: 3717
• Study Type: interventional
• Target: 150
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (2)

• 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.

  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.

  2 years

Secondary Outcomes (1)

• Characterization of pain in RASopathies

  2 years

Study Arms (1)

Case group

EXPERIMENTAL

Detection and characterization of pain by clinical evaluations, biochemical analysis and instrumental tests

Diagnostic Test: Characterization of pain

Interventions

Characterization of pain DIAGNOSTIC_TEST

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

Case group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• Individuals with a RASopathy con confirmed by genetic analysis

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS

Roma, 00168, Italy

RECRUITING

MeSH Terms

Conditions

Costello Syndrome; Cardiofaciocutaneous syndrome; Noonan Syndrome

Condition Hierarchy (Ancestors)

Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Officials

• Chiara Leoni, MD, PhD

  Fondazione Policlinico A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chiara Leoni, MD, PhD

CONTACT

0039063381344; chiara.leoni@policlinicogemelli.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 27, 2023
• First Posted: April 9, 2024
• Study Start: January 27, 2021
• Primary Completion: January 30, 2024
• Study Completion: June 30, 2025
• Last Updated: March 21, 2025

Record last verified: 2024-03

Locations

IT (1)