Noonan syndrome
Information
- Disease name
- Noonan syndrome
- Disease ID
- DOID:3490
- Description
- "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms." [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome#definition, url:https\://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome, url:https\://research.nhgri.nih.gov/atlas/condition/noonan-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Noonan-Syndrome]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00452725 | Completed | Phase 3 | Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome | October 1997 | July 2010 |
| NCT01529840 | Completed | Phase 3 | Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome | June 1990 | September 2005 |
| NCT01529944 | Completed | Phase 3 | Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 | September 2008 | October 2008 |
| NCT00960128 | Completed | Observational Prospective Study on Patients Treated With Norditropin® | April 1, 2006 | December 31, 2016 | |
| NCT01927861 | Completed | Phase 3 | Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome | August 19, 2013 | July 12, 2018 |
| NCT02486731 | Completed | Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes | December 16, 2015 | December 2018 | |
| NCT02713945 | Completed | Phase 3 | Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome | January 25, 2017 | March 3, 2023 |
| NCT03435627 | Completed | Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) | February 26, 2018 | January 18, 2022 | |
| NCT05308927 | Enrolling by invitation | French Registry of Children Treated With Norditropin® for Short Stature Associated With Noonan Syndrome | March 16, 2022 | March 17, 2028 | |
| NCT06331117 | Recruiting | N/A | Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies | April 22, 2021 | April 22, 2026 |
| NCT06355622 | Recruiting | N/A | Prevalence and Characterization of Pain in RASopathies | January 27, 2021 | June 30, 2024 |
| NCT04395495 | Recruiting | RASopathy Biorepository | June 27, 2017 | December 2065 | |
| NCT04463316 | Recruiting | GROWing Up With Rare GENEtic Syndromes | October 1, 2018 | January 1, 2030 | |
| NCT04888936 | Recruiting | Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies | April 25, 2022 | January 31, 2025 | |
| NCT05202210 | Recruiting | Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome | January 26, 2022 | January 26, 2032 | |
| NCT05361811 | Recruiting | N/A | Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial | January 10, 2024 | October 1, 2024 |
| NCT05723835 | Recruiting | Phase 3 | A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9 | February 1, 2023 | June 21, 2027 |
| NCT05761314 | Recruiting | N/A | Solid Tumors in RASopathies | October 12, 2021 | October 12, 2026 |
| NCT06267807 | Recruiting | N/A | Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders | March 27, 2024 | June 1, 2025 |
| NCT00351221 | Terminated | Phase 2 | Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome |
- Disase is a (Disease Ontology)
- DOID:0080690
- Cross Reference ID (Disease Ontology)
- GARD:10955
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.19
- Cross Reference ID (Disease Ontology)
- MESH:D009634
- Cross Reference ID (Disease Ontology)
- MIM:PS163950
- Cross Reference ID (Disease Ontology)
- NCI:C34854
- Cross Reference ID (Disease Ontology)
- ORDO:648
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:88327006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0028326
- Exact Synonym (Disease Ontology)
- Turner's phenotype, karyotype normal
- OMIM Phenotype Series Number (OMIM)
- PS163950
- OrphaNumber from OrphaNet (Orphanet)
- 648
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009634