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RASopathy Biorepository

Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
No age limits stated
Sex
All sexes
Healthy volunteers
Accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Procedures mentioned: Questionnaires, Blood draws

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "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."
  • "Non-invasive or minimally invasive procedures to collect tissues for research purposes only, such as saliva, skin, or blood samples are also allowed."
  • "Participants will also complete surveys to be included in the research database (see "Research Database" section for details). 5."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study collects and stores blood or tissue samples to learn more about RASopathies, genetic conditions that affect growth and development. It also stores health records and survey answers for future research. It is for people with a known or suspected RASopathy and their relatives who do not have one.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • People with a known or suspected RASopathy, such as neurofibromatosis, Costello syndrome, or Noonan syndrome. A diagnosis may come from a doctor's exam, genetic testing, or both.
  • Relatives who do not have a RASopathy but are related to someone with a known or suspected RASopathy.

Who can't join

  • People who have neither a known or suspected RASopathy nor a relative with one.
  • People who cannot complete the informed consent process, or whose parent or legal guardian cannot complete it. This process means understanding the study and agreeing to take part.

Simplified for readability. The official criteria below are what the study team uses.

Official 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.

Study sites (1)

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