RASopathy Biorepository
Public ClinicalTrials.gov record NCT04395495. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT04395495
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 1,000 participants
Conditions and interventions
Conditions
- RAS Mutation
- Neurofibromatosis 1
- Noonan Syndrome
- Noonan Syndrome With Multiple Lentigines
- Noonan Neurofibromatosis Syndrome
- Cardiofaciocutaneous Syndrome
- Costello Syndrome
- Legius Syndrome
- Smith-Kingsmore Syndrome
- MTOR Gene Mutation
- GATOR-1 Gene Mutation
- SYNGAP1-Related Intellectual Disability
- DLG4
- MAPK1 Gene Mutation
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jun 26, 2017
- Primary completion
- Nov 30, 2065
- Completion
- Nov 30, 2065
- Last update posted
- Dec 17, 2025
2017 – 2065
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Cincinnati Children's Hospital Medical Center | Cincinnati | Ohio | 45229 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT04395495, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Dec 17, 2025 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT04395495 live on ClinicalTrials.gov.