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RASopathy Biorepository Study

This study is creating a collection of biological samples (like blood or tissue) and medical information from people with a group of genetic conditions called RASopathies. These conditions, such as Neurofibromatosis 1 and Noonan Syndrome, are caused by changes in a specific cell pathway important for development. Researchers want to understand these conditions better by studying these samples and medical histories. You can join if you have a suspected or known RASopathy, or if you are an unaffected family member of someone with a RASopathy. The main goal is to collect these samples and medical histories over a long period (up to 50 years) to help future research.

Study design
This is an observational study aiming to enroll 1000 participants. It is not testing a specific treatment but rather collecting information and samples.
What's involved
You would provide biological samples (like blood, saliva, or skin) and your medical history. The collection of samples from children will only happen if it is safe for them.
Compensation
Not stated in the trial record.
Follow-up
Medical history and biospecimen collection will be measured for up to 50 years.

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NCT04395495

RASopathy Biorepository

Recruiting
Not specifiedAll AgesObservational
Children's Hospital Medical Center, Cincinnati
~1,000 participants
Updated 2025-12-18 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Collection of biospecimen
Measured over 50 years
+1 more outcome measured

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

Explore related trials

Cardiofaciocutaneous SyndromeCostello SyndromeDLG4GATOR-1 Gene MutationLegius SyndromeLEOPARD SyndromeMacrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndromeMAPK1 Gene MutationMental Retardation, Autosomal Dominant 5MTOR Gene MutationMutation RateNeurofibromatosis Noonan syndromeNeurofibromatosis Type 1Noonan Syndrome

Where it's being run

1 sites across 1 states
Ohio1

Study leadership

  • Kathryn N Weaver, MD · PRINCIPAL_INVESTIGATOR · Children's Hospital Medical Center, Cincinnati

Who to contact

Lindsey Aschbacher-Smith, MS
[email protected]
513-803-0077
Email the study team

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Eligibility criteria

Inclusion

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

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.

What this trial measures

  • Collection of biospecimen50 years

    Collect specimens derived from blood, buccal cells, sputum, urine, bone marrow, tumor tissue and residual specimens, including but not limited to pleural fluid, ascetic fluid, chyle, skin, lung, lymphatic or renal tissue and/or bronchoalveolar lavage fluid, tissue specimens, and/or cells that are left over from clinical procedures from enrolled patients for research purposes only.

  • Collection of medical history50 years

    Collect demographic information, medical history, and clinical test results to create a longitudinal research database of participants with suspected or diagnosed RASopathies. Participants will also complete surveys to be included in the research database (see "Research Database" section for details).