Last reviewed · How we verify
NCT06331117: 3776
Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies
NA trial testing Diagnostic test in RASopathy in 120 participants. Currently enrolling.
22 December 2021
Quick facts
| Lead sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS |
|---|---|
| Phase | NA |
| Status | Recruiting now |
| Study type | INTERVENTIONAL |
| Allocation | na |
| Design | single group |
| Masking | none |
| Primary purpose | diagnostic |
| Enrollment | 120 |
| Start date | 22 April 2021 |
| Primary completion | 22 December 2021 |
| Estimated completion | 22 April 2026 |
| Sites | 1 location across Italy |
Drugs / interventions tested
- Diagnostic test
Conditions studied
- RASopathy — all drugs for RASopathy →
- Costello Syndrome — all drugs for Costello Syndrome →
- Noonan Syndrome — all drugs for Noonan Syndrome →
- Cardio-Facio-Cutaneous Syndrome — all drugs for Cardio-Facio-Cutaneous Syndrome →
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.
Verify or expand the search:
- PubMed search for NCT06331117
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
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Trials by the same sponsor.
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06331117 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Last refreshed: 26 March 2024
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT06331117.
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