Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies

NCT ID: NCT06331117

Last Updated: 2024-03-26

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

120 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-04-22

Study Completion Date

2026-04-22

Brief Summary

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Costello syndrome (CS) and cardio-facio cutaneous syndrome (CFCS) belongs to RASopathies, a group of multisystemic disorders caused by unregulated signalling through the RAS/MAPK pathway, an intracellular signalling pathway regulating multiple processes such as cellular proliferation, differentiation, survival, apoptosis and also contributing to oncogenesis. They share a recognizable facial appearance, aged appearance, growth delay, muscle-skeletal anomalies, heart defects, neuropsychological features, skin and ocular abnormalities, and cancer predisposition.

Even though life expectancy of individuals with CS and CFCS has increased in the last years due to the improvement of patients' care and a more effective prevention of comorbidities, some of the most challenging aspects impacting on everyday living such as growth failure, accelerate senescence and skeletal-muscle defects, still need to be fully understood. This statement underlies the need to improve clinical research protocols with more innovative techniques (multi-omics profiling) in order to better understand the effect of RAS/MAPK pathway hyperactivations on different systems and to define possible personalized treatments.

Detailed Description

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Multiomics profiling of the RASopathies

Conditions

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RASopathy Costello Syndrome Noonan Syndrome Cardio-Facio-Cutaneous 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

Multiomics profiling of the RASopathies

Group Type EXPERIMENTAL

Diagnostic test

Intervention Type DIAGNOSTIC_TEST

Multiomics profiling

Interventions

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Diagnostic test

Multiomics profiling

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria

* Only clinical diagnosis of a RASoapthy
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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Leoni Chiara

MD, PhD

Responsibility Role PRINCIPAL_INVESTIGATOR

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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3776

Identifier Type: -

Identifier Source: org_study_id

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