Actively Recruiting
RASopathy Biorepository
Led by Children's Hospital Medical Center, Cincinnati · Updated on 2025-12-18
1000
Participants Needed
1
Research Sites
2527 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
RASopathy Biorepository
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with a suspected or confirmed diagnosis of any RASopathy, including Neurofibromatosis, Costello Syndrome, or Noonan Syndrome, diagnosed clinically and/or by genetic testing
- Unaffected relatives of patients with a suspected or confirmed diagnosis of any RASopathy
You will not qualify if you...
- Individuals without a suspected or definite diagnosis of a RASopathy
- Individuals without a relative diagnosed or suspected to have a RASopathy
- Patients or their parent/legal guardian unable to undergo the informed consent process
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
Research Team
L
Lindsey Aschbacher-Smith, MS
CONTACT
L
Laurie Bailey, MS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
14
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