RASopathy Biorepository

Launched by CHILDREN'S HOSPITAL MEDICAL CENTER, CINCINNATI · May 15, 2020

Keywords

ClinConnect Summary

The RASopathy Biorepository is a clinical trial focused on collecting and storing samples from patients with certain genetic disorders called RASopathies. These conditions, which include Neurofibromatosis and Noonan Syndrome, occur due to changes in specific genes that affect how cells grow and function. The study aims to gather blood and tissue samples, along with medical records, to better understand these disorders and develop future research. This could help identify new ways to diagnose and treat individuals with these conditions.

To be eligible for the trial, participants should either have a confirmed or suspected diagnosis of a RASopathy, or be an unaffected family member of someone diagnosed with one of these disorders. If you decide to participate, you will provide a sample and some medical information, which will contribute to a larger database aimed at improving knowledge about these genetic conditions. The study is open to people of all ages and genders, and participation may help advance research that could benefit others with similar conditions in the future.

Gender

ALL

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.