Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies

Exclusion Criteria

• •All types and amounts of prior therapies are allowed.
• •There is no age restriction.
• •There is no restriction related to organ and marrow function.
• •Each carrier (or their appropriate surrogate if the carrier is unable) must sign an IRB-approved document of informed consent to demonstrate their understanding of the investigational nature and the risk of this study before any protocol-related studies are
• •performed.
• •Controls: Family members of carriers are eligible for enrollment. Genetic testing in a CLIA-certified lab will be offered to these blood-related family members to establish whether or not a variant may be segregating in a family with incomplete penetrance. As most of the RASopathy syndromes are sporadic, extensive testing and enrollment of extended family members (grandparents, aunts, uncles) will likely not be necessary in many pedigrees. Family members who have undergone genetic testing for the proband s RAS variant and do not harbor it (or non-blood-related family members) are controls. Carriers and controls in this study are referred to as "participants," "individuals," or "patients."
• •All types and amounts of prior therapies are allowed.
• •There is no age restriction.
• •There is no restriction related to organ and marrow function.
• •Each control (or their appropriate surrogate if the control is unable) must sign an IRB-approved document of informed consent to demonstrate their understanding of the investigational nature and the risk of this study before any protocol-related studies are
• •performed.
• •Carriers: An individual who meets any of the following criteria will be excluded from participation in this study:
• •Individuals with only a diagnosis of NF1, or a newly identified germline pathogenic germline variant in NF1, and first-degree relatives of these patients are ineligible. However, individuals with a dual diagnosis of both NF1 and another RASopathy (via genetic testing and/or clinical diagnosis) are eligible for the study.
• •Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.
• •Controls: An individual who meets any of the following criteria will be excluded from participation in this study:
• •-Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.