Status:
RECRUITING
RASopathy Biorepository
Lead Sponsor:
Children's Hospital Medical Center, Cincinnati
Conditions:
RAS Mutation
Neurofibromatosis 1
Eligibility:
All Genders
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 ...
Detailed Description
Patients who are being evaluated for a RASopathy may have overlapping features, but the disorders individually can be exceedingly rare and many are not yet well characterized. Additionally, available ...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
June 27 2017
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2065
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT04395495
Start Date
June 27 2017
End Date
December 1 2065
Last Update
December 18 2025
Active Locations (1)
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1
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229