Clinical trial · Observational
RASopathy Biorepository
Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function of this pathway is critical to normal development. Each syndrome in this group of disorders has unique phenotypic features, but there are many overlapping features including facial features, heart defects, cutaneous abnormalities, cognitive delays, and a predisposition to malignancies. This research study proposes to collect and store human bio-specimens from patients with suspected or diagnosed RASopathies. Once obtained, blood and/or tissue samples will be processed for: metabolic function studies, biomarkers, genetic studies, and/or the establishment of immortalized cell lines. In addition, data from the medical record (including neuropsychological evaluations) and surveys will be stored to create a longitudinal database for research conducted at CCHMC or at other research institutions.
Conditions
Conditions (14)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cardiofaciocutaneous Syndrome | — | UNRESOLVED | — |
| Costello Syndrome | — | UNRESOLVED | — |
| DLG4 | — | UNRESOLVED | — |
| GATOR-1 Gene Mutation | — | UNRESOLVED | — |
| Legius Syndrome | — | UNRESOLVED | — |
| MAPK1 Gene Mutation | — | UNRESOLVED | — |
| MTOR Gene Mutation | — | UNRESOLVED | — |
| Neurofibromatosis 1 | — | UNRESOLVED | — |
| Noonan Neurofibromatosis Syndrome | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (14)
- label
- Neurofibromatosis 1 (NF1)
- description
- Individuals with a confirmed or suspected diagnosis of Neurofibromatosis Type 1 (NF1). Diagnosis may be made clinically and/or confirmed through genetic testing. Clinical (non-genetic) diagnosis requires that individuals meet the National Institute of Health's (NIH) clinical diagnostic criteria for NF1.
- label
- Noonan Syndrome
- description
- Individuals with a confirmed or suspected diagnosis of Noonan Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
- label
- Noonan Syndrome with Multiple Lentigines
- description
- Individuals with a confirmed or suspected diagnosis of Noonan Syndrome with Multiple Lentigines. Diagnosis may be made clinically and/or confirmed through genetic testing.
- label
- Noonan Neurofibromatosis Syndrome
- description
- Individuals with a confirmed or suspected diagnosis of Noonan Neurofibromatosis Syndrome. Diagnosis may be made clinically and/or confirmed through genetic testing.
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * Patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies (e.g., Neurofibromatosis, Costello Syndrome, Noonan Syndrome). Diagnosis may be made clinically and/or confirmed through genetic testing. * Unaffected relatives of patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies. Exclusion Criteria: * Individuals who do not have a suspected or definite diagnosis of a RASopathy. * Individuals who do not have a relative with a suspected or definite diagnosis of a RASopathy. * Patients who do not have the ability/capacity to undergo the informed consent process OR whose parent/legal guardian is unable to undergo the informed consent process.
References
Publications (22)
- BACKGROUNDAlfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Behavioral profile in RASopathies. Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23. PMID 24458522
- BACKGROUNDAoki Y, Niihori T, Inoue S, Matsubara Y. Recent advances in RASopathies. J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. PMID 26446362
- BACKGROUNDBaldassarre G, Mussa A, Carli D, Molinatto C, Ferrero GB. Constitutional bone impairment in Noonan syndrome. Am J Med Genet A. 2017 Mar;173(3):692-698. doi: 10.1002/ajmg.a.38086. PMID 28211980
- BACKGROUNDCizmarova M, Hlinkova K, Bertok S, Kotnik P, Duba HC, Bertalan R, Polockova K, Kostalova L, Pribilincova Z, Hlavata A, Kovacs L, Ilencikova D. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Ann Hum Genet. 2016 Jan;80(1):50-62. doi: 10.1111/ahg.12140. Epub 2015 Nov 26. PMID 26607044
- BACKGROUNDConboy E, Dhamija R, Wang M, Xie J, Dyck PJ, Bridges AG, Spinner RJ, Clayton AC, Watson RE, Messiaen L, Babovic-Vuksanovic D. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. J Med Genet. 2016 Feb;53(2):123-6. doi: 10.1136/jmedgenet-2015-103177. Epub 2015 Sep 2. PMID 26337637
- BACKGROUNDda Silva FM, Jorge AA, Malaquias A, da Costa Pereira A, Yamamoto GL, Kim CA, Bertola D. Nutritional aspects of Noonan syndrome and Noonan-related disorders. Am J Med Genet A. 2016 Jun;170(6):1525-31. doi: 10.1002/ajmg.a.37639. Epub 2016 Apr 1. PMID 27038324
- BACKGROUNDGarg S, Brooks A, Burns A, Burkitt-Wright E, Kerr B, Huson S, Emsley R, Green J. Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway. Dev Med Child Neurol. 2017 May;59(5):544-549. doi: 10.1111/dmcn.13394. Epub 2017 Feb 4.