RASopathy Biorepository
Recruiting
Observational Study
RAS Mutation
Neurofibromatosis 1
Noonan Syndrome
Noonan Syndrome With Multiple Lentigines
Noonan Neurofibromatosis Syndrome
Cardiofaciocutaneous Syndrome
Costello Syndrome
Legius Syndrome
Smith-Kingsmore Syndrome
MTOR Gene Mutation
GATOR-1 Gene Mutation
SYNGAP1-Related Intellectual Disability
DLG4
MAPK1 Gene Mutation
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 1,000 (estimated)
- Sponsor
- Children's Hospital Medical Center, Cincinnati · Other
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About This Trial
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 syn…
Trial Locations
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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 …
Contacts