Noonan Syndrome Clinical Trial
Official title:
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.
Multiomics profiling of the RASopathies ;
| 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 |