- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT06331117
Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies (3776)
The Impact of Ras/MAPK Pathway Hyperactivation on Bioenergetic Metabolism and Its Effect on Growth Profile and Bone Metabolism
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.
Study Overview
Status
Intervention / Treatment
Detailed Description
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Chiara Leoni, MD, PhD
- Phone Number: 0039063381344
- Email: chiara.leoni@policlinicogemelli.it
Study Locations
-
-
-
Roma, Italy, 00168
- Recruiting
- Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
-
Contact:
- Chiara Leoni, MD, PhD
- Phone Number: 0039063381344
- Email: chiara.leoni@policlinicogemelli.it
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Clinical and molecularly confirmed diagnosis of a RASopathy
Exclusion Criteria:
- Only clinical diagnosis of a RASoapthy
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Case group
Multiomics profiling of the RASopathies
|
Multiomics profiling
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Metabolomic profile of the RASopathies
Time Frame: 3 years
|
To perform metabolomic profile in all enrolled RASopahty patients
|
3 years
|
Collaborators and Investigators
Investigators
- Principal Investigator: Chiara Leoni, MD, PhD, Fondazione Policlinico A. Gemelli, IRCCS
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Cardiovascular Diseases
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Connective Tissue Diseases
- Heart Defects, Congenital
- Cardiovascular Abnormalities
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Abnormalities, Multiple
- Syndrome
- Noonan Syndrome
- Costello Syndrome
Other Study ID Numbers
- 3776
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Noonan Syndrome
-
Children's Hospital Medical Center, CincinnatiRecruitingNeurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome | SYNGAP1-Related Intellectual Disability | DLG4 | RAS Mutation | Noonan Syndrome With Multiple Lentigines | Noonan Neurofibromatosis Syndrome | Smith-Kingsmore Syndrome | MTOR Gene Mutation | GATOR-1 Gene... and other conditionsUnited States
-
Novo Nordisk A/SRecruitingSGA, Turner Syndrome, Noonan Syndrome, ISSBelgium, Korea, Republic of, United States, Ireland, Malaysia, United Kingdom, Finland, France, Netherlands, Italy, Thailand, China, Japan, Portugal, Israel, Brazil, Greece, India, Mexico, Bulgaria, Serbia, Lithuania, Austria, Canada, C... and more
-
University Hospital, ToulouseCompletedChild SyndromeFrance
-
Fondazione Policlinico Universitario Agostino Gemelli...RecruitingNoonan Syndrome | Costello Syndrome | RASopathy | Cardio-Facio-Cutaneous SyndromeItaly
-
Insmed IncorporatedTerminated
-
Fondazione Policlinico Universitario Agostino Gemelli...RecruitingNoonan Syndrome | Costello Syndrome | RASopathy | Cardio-Facio-Cutaneous SyndromeItaly
-
National Cancer Institute (NCI)RecruitingNoonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome | Capillary Arteriovenous Malformation Syndrome | RASopathyUnited States
-
University Hospital, ToulouseRecruiting
-
University Hospital, ToulouseCompleted
-
SanofiCompleted
Clinical Trials on Diagnostic test
-
Hospital Clínica KennedyCompletedStroke | Insomnia | Ischemic Heart Disease | Sleep-disordered Breathing | HypersomniaEcuador
-
Hospices Civils de LyonRecruiting
-
Istanbul UniversityRecruitingCleft Lip and Palate | Dental Age EstimationTurkey
-
Hospital St. Joseph, Marseille, FranceRecruiting
-
Tel-Aviv Sourasky Medical CenterUnknown
-
Suleyman Demirel UniversityRecruiting
-
University of ZurichRecruiting
-
Institute of Cardiometabolism and Nutrition, FranceEnrolling by invitationInduced Pluripotent Stem CellsFrance
-
CDx DiagnosticsCompletedBarrett Esophagus | Esophageal Adenocarcinoma | Esophageal DysplasiaBelgium
-
ChroniSense Medical Ltd.Completed