| NCT ID | NCT04395495 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Children's Hospital Medical Center, Cincinnati |
| Condition | RAS Mutation |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,000 participants |
| Start Date | 2017-06-27 |
| Primary Completion | 2065-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,000 participants in total. It began in 2017-06-27 with a primary completion date of 2065-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility Criteria
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.
Contact & Investigator
Kathryn N Weaver, MD
PRINCIPAL INVESTIGATOR
Children's Hospital Medical Center, Cincinnati
Frequently Asked Questions
Who can join the NCT04395495 clinical trial?
This trial is open to participants of all sexes, studying RAS Mutation. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04395495 currently recruiting?
Yes, NCT04395495 is actively recruiting participants. Contact the research team at Lindsey.Aschbacher-Smith@cchmc.org for enrollment information.
Where is the NCT04395495 trial being conducted?
This trial is being conducted at Cincinnati, United States.
Who is sponsoring the NCT04395495 clinical trial?
NCT04395495 is sponsored by Children's Hospital Medical Center, Cincinnati. The principal investigator is Kathryn N Weaver, MD at Children's Hospital Medical Center, Cincinnati. The trial plans to enroll 1,000 participants.