Collection of bio-specimens from patients with RASopathies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Therapy to help caregivers of children with genetic disorders manage stress

  This study tests whether a remote therapy program can help caregivers of children with genetic disorders manage their stress better.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT05361811

• Study of genetic and clinical aspects of RASopathies in children and adults

  This study is testing how genetic and clinical factors in people with RASopathies can help us understand their health risks and improve cancer screening for both children and adults.

  Recruiting at 2 sites National Institutes of Health Clinical Center (CC) · Bethesda, Maryland and 1 other locations · NCT04888936

• Online program for families with genetic changes linked to autism

  This study is trying to see how an online program can help families with genetic changes related to autism by gathering their health and development information.

  Recruiting at 2 sites Simons Searchlight · Boston, Massachusetts and 1 other locations · NCT01238250

• National Registry for Noonan Syndrome (Italy)

  This registry will collect genetic and clinical information from people with Noonan syndrome in Italy to understand how the condition changes over time and how treatments like growth hormone may work.

  Recruiting at 35 sites Istituto Giannina Gaslini · Ancona and 34 other locations · NCT07881159

• Neuroradiology Features in Noonan Syndrome and Gene-Linked Brain Differences

  This study tests brain MRI and MR angiography in people with Noonan syndrome to see how brain imaging patterns relate to their specific genetic mutations.

  Recruiting at 10 sites Istituto Giannina Gaslini · Bari and 9 other locations · NCT07881081

• BG-85738 alone or with other anticancer drugs in RAS-mutant advanced or metastatic solid tumors

  This study tests BG-85738, alone or with other cancer drugs, in adults whose solid tumors have RAS mutations and have progressed.

  Recruiting at 3 sites Phase 1 BeOne Medicines · South Brisbane, Queensland and 2 other locations · NCT07746141

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.