Solid Tumors in RASopathies | NCT05761314

Studies
Solid Tumors in RASopathies

NCT05761314

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Status

Recruiting

Last Update Posted

Apr 4, 2024Actual

Enrollment

100Estimated

Phase

Not Applicable

Conditions

RASopathy
Costello Syndrome
Cardio-Facio-Cutaneous Syndrome
Noonan Syndrome

Interventions

Molecular characterization of solid tumor in RASopathies

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2024

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 12, 2021Actual

Primary Completion Date

Oct 30, 2023Actual

Completion Date

Oct 12, 2026Estimated

First Submitted Date

Feb 27, 2023

First Submission Date that Met QC Criteria

Feb 27, 2023

First Posted Date

Mar 9, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 3, 2024

Last Update Posted Date

Apr 4, 2024Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth.

RASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations.

Based on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.

Detailed Description

To define the prevalence of solid (non-haematological) neoplasms in a monocentric cohort of patients affected by RASopathies To perform Next Generation Sequencing (NGS) analysis on tissue samples to preliminarily characterize the molecular pathogenesis of solid tumors in these patients' categories.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

100Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Case group	Experimental	To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies	Diagnostic Test: Molecular characterization of solid tumor in RASopathies

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Molecular characterization of solid tumor in RASopathies	Diagnostic Test	NGS analysis on tumor sample	Case group

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Prevalence of solid tumors in RASopathies	To detect prevalence of solid tumors in monocentric cohort of RASopathies	5 years

Secondary Outcomes

Measure	Description	Time Frame
Molecular characterization of solid tumors in RASopathies	NGS analysis on tumor tissue samples	5 years

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria:

Clinical diagnosis of RASopathy without molecular characterization

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Chiara Leoni, MD, PhD	Contact	0039063381344		chiara.leoni@policlinicogemelli.it

Overall Officials

Name	Affiliation	Role
Chiara Leoni, MD, PhD	Fondazione Policlinico A. Gemelli, IRCCS	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS	Recruiting	Roma		00168	Italy

Condition Browse Module

MeSH Terms

ID	Term
D056685	Costello Syndrome
C535579	Cardiofaciocutaneous syndrome
D009634	Noonan Syndrome

Ancestor Terms

ID	Term
D019465	Craniofacial Abnormalities
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases
D000015	Abnormalities, Multiple

Browse Leaves

Not provided

Browse Branches

Not provided