Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT06331117
Other study ID # 3776
Secondary ID
Status Recruiting
Phase N/A
First received
Last updated
Start date April 22, 2021
Est. completion date April 22, 2026

Study information

Verified date March 2024
Source Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact Chiara Leoni, MD, PhD
Phone 0039063381344
Email chiara.leoni@policlinicogemelli.it
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial Summary

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.


Description:

Multiomics profiling of the RASopathies


Recruitment information / eligibility

Status Recruiting
Enrollment 120
Est. completion date April 22, 2026
Est. primary completion date December 22, 2021
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - Clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: - Only clinical diagnosis of a RASoapthy

Study Design


Related Conditions & MeSH terms


Intervention

Diagnostic Test:
Diagnostic test
Multiomics profiling

Locations

Country Name City State
Italy Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS Roma

Sponsors (1)

Lead Sponsor Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome

Type Measure Description Time frame Safety issue
Primary Metabolomic profile of the RASopathies To perform metabolomic profile in all enrolled RASopahty patients 3 years
See also
  Status Clinical Trial Phase
Completed NCT01529944 - Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Phase 3
Completed NCT00452725 - Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Phase 3
Recruiting NCT05761314 - Solid Tumors in RASopathies N/A
Recruiting NCT04463316 - GROWing Up With Rare GENEtic Syndromes
Recruiting NCT06267807 - Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders N/A
Enrolling by invitation NCT05308927 - French Registry of Children Treated With Norditropin® for Short Stature Associated With Noonan Syndrome
Recruiting NCT04395495 - RASopathy Biorepository
Completed NCT01529840 - Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Phase 3
Recruiting NCT06355622 - Prevalence and Characterization of Pain in RASopathies N/A
Recruiting NCT05202210 - Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome
Completed NCT02713945 - Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Phase 3
Recruiting NCT05361811 - Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial N/A
Completed NCT03435627 - Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome)
Recruiting NCT05723835 - A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9 Phase 3
Completed NCT02486731 - Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
Completed NCT01927861 - Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Phase 3
Recruiting NCT04888936 - Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
Completed NCT00960128 - Observational Prospective Study on Patients Treated With Norditropin® N/A
Terminated NCT00351221 - Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome Phase 2