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RASopathy Biorepository

Children's Hospital Medical Center, Cincinnati · NCT04395495

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
1000
US sites recruiting
1
Study start
June 27, 2017
Record last updated
December 18, 2025

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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 syndrome in this group of disorders has unique phenotypic features, but there are many overlapping features including facial features, heart defects, cutaneous abnormalities, cognitive delays, and a predisposition to malignancies. This research study proposes to collect and store human bio-specimens from patients with suspected or diagnosed RASopathies. Once obtained, blood and/or tissue samples will be processed for: metabolic function studies, biomarkers, genetic studies, and/or the establishment of immortalized cell lines. In addition, data from the medical record (including neuropsychological evaluations) and surveys will be stored to create a longitudinal database for research conducted at CCHMC or at other research institutions.

Conditions: 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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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.

Recruiting US locations

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, OH 45229

    Site contact: Lindsey Aschbacher-Smith, MS · 513.803.0077 · Lindsey.Aschbacher-Smith@cchmc.org

Study contacts (from the official record)

  • Lindsey Aschbacher-Smith, MS · 513-803-0077 · Lindsey.Aschbacher-Smith@cchmc.org
  • Laurie Bailey, MS · 513-636-4507 · Laurie.Bailey@cchmc.org
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RASopathy Biorepository (NCT04395495) | Bored Studies