Prevalence and Characterization of Pain in RASopathies

NCT ID: NCT06355622

Last Updated: 2025-03-21

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

150 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-01-27

Study Completion Date

2025-06-30

Brief Summary

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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

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

Conditions

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RASopathy Costello Syndrome Cardio-Facio-Cutaneous Syndrome Noonan Syndrome

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Case group

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

Group Type EXPERIMENTAL

Characterization of pain

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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Characterization of pain

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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* Individuals with a RASopathy con confirmed by genetic analysis
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Chiara Leoni, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Fondazione Policlinico A. Gemelli, IRCCS

Locations

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

Roma, , Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Chiara Leoni, MD, PhD

Role: CONTACT

0039063381344

Facility Contacts

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Chiara Leoni, MD, PhD

Role: primary

0039063381344

Other Identifiers

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3717

Identifier Type: -

Identifier Source: org_study_id

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