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Prevalence and Characterization of Pain in RASopathies (3717)

I

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

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)

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

Trial contacts and locations

1

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Central trial contact

Chiara Leoni, MD, PhD

Data sourced from clinicaltrials.gov

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