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NCT06331117: 3776

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

Recruiting now NA Last updated 26 March 2024
What this trial tests

NA trial testing Diagnostic test in RASopathy in 120 participants. Currently enrolling.

Timeline
22 April 2021
Primary endpoint
22 December 2021
22 April 2026

Quick facts

Lead sponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS
PhaseNA
StatusRecruiting now
Study typeINTERVENTIONAL
Allocationna
Designsingle group
Maskingnone
Primary purposediagnostic
Enrollment120
Start date22 April 2021
Primary completion22 December 2021
Estimated completion22 April 2026
Sites1 location across Italy

Drugs / interventions tested

Conditions studied

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Who can join

Eligibility, any sex, with RASopathy or Costello Syndrome. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Other trials of Diagnostic test

Trials testing the same drug.

Other recruiting trials for RASopathy

Currently open trials in the same condition.

Other Fondazione Policlinico Universitario Agostino Gemelli IRCCS trials

Trials by the same sponsor.

Verify against primary sources

Data sources for this page

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