Prevalence and Characterization of Pain in RASopathies (3717)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

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

Treatments: Diagnostic Test: Characterization of pain

Study type: Interventional

Funder types: Other

Identifiers

NCT06355622

3717

Details and patient eligibility

About

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.

Full description

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

Enrollment: 150 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• Individuals with a RASopathy con confirmed by genetic analysis

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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150 participants in 1 patient group

Case group

Experimental group

Description:

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

Treatment:

Diagnostic Test: Characterization of pain