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.
Who can participate
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this trial is a biorepository study — meaning it's collecting blood, tissue, or other samples and medical history rather than testing a new treatment — what exactly would be asked of me or my child in terms of sample donations, and how often would we need to participate?
2Given that my diagnosis involves a RASopathy or related genetic condition like Noonan syndrome or neurofibromatosis, how might contributing to this kind of biobank actually help researchers understand these conditions better, and would any findings from my samples ever be shared back with me?
3Because this study isn't testing a new drug or therapy, does joining it have any impact on my ability to pursue standard treatments or enroll in other clinical trials at the same time?
4What are the privacy considerations around storing my genetic and medical history data in a biorepository — who would have access to it, and how long would it be kept?
5Would you recommend this biorepository study as something worth participating in alongside my regular care, or are there other research studies focused on my specific diagnosis that might be a higher priority to discuss first?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Collection of biospecimen
Timeframe: 50 years
2
Collection of medical history
Timeframe: 50 years
Trial details
NCT IDNCT04395495
SponsorChildren's Hospital Medical Center, Cincinnati