NCT04395495Recruiting
RASopathy Biorepository
Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.
Source: ClinicalTrials.gov · Last updated 18 Dec 2025
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 1000 (estimated)
- First submitted
- 15 May 2020
- Start date
- 27 Jun 2017
- Primary completion date
- Dec 2065
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- NCT number
- NCT04395495
What you commit to
- Study type: Observational
- Planned participants: 1000
- From 27 Jun 2017 to the primary completion date, Dec 2065
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- 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.
Who the study is looking for
- 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.
Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Cincinnati Children's Hospital Medical Center Coordinator of this site? Confirm its status | Cincinnati | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.