Collection of bio-specimens from patients with RASopathies
Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.
This study is collecting samples from people with RASopathies to help researchers learn more about these rare genetic disorders and how they affect the body.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Children's Hospital Medical Center, Cincinnati Academic / other |
| Locations | 1 site (Cincinnati, Ohio) |
| Trial ID | NCT04395495 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and store bio-specimens from patients diagnosed with or suspected to have RASopathies, a group of genetic disorders affecting the Ras/MAPK pathway. The study will gather various biological samples, including blood, tissue, and other bodily fluids, to investigate the metabolic and molecular basis of these conditions. Additionally, demographic and medical history data will be collected to create a comprehensive longitudinal database for future research. The goal is to better understand the commonalities and differences among these rare disorders.
Who should consider this trial
Good fit: Ideal candidates include patients with a suspected or confirmed diagnosis of any RASopathy, as well as their unaffected relatives.
Not a fit: Patients without a suspected or confirmed diagnosis of a RASopathy or those without affected relatives may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance the understanding of RASopathies and lead to improved diagnostic and therapeutic strategies for affected patients.
How similar studies have performed: While this approach is focused on a specific group of rare disorders, similar studies have shown promise in understanding genetic conditions through biorepositories.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Cincinnati, Ohio
- Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (Recruiting)
Study contacts
- Principal investigator: Kathryn N Weaver, MD — Children's Hospital Medical Center, Cincinnati
- Study coordinator: Lindsey Aschbacher-Smith, MS
- Email: Lindsey.Aschbacher-Smith@cchmc.org
- Phone: 513-803-0077
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.