RecruitingNot Applicable

Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies

United States500 participantsStarted 2022-04-25

Plain-language summary

Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more. Objective: To learn more about RASopathies, how genes and environmental factors contribute to cancer development in people with RASopathies, and the best way to find these cancers and other conditions early or prevent them. Eligibility: People of any age who have or may have a RASopathy, and their family members. Design: Participants will complete questionnaires about their personal and family medical history. Their medical records will be reviewed. Participants will give blood and urine samples. They will give a saliva or cheek cell sample. Some samples will be used for genetic testing. Participants may have a skin biopsy. Participants may have a physical exam by the RASopathies study team. They may also have exams by additional specialists, such as dentists; urologists; ear, nose, and throat doctors; and neurologists. Participants may have computed tomography of the face and mouth. They may have an ultrasound of the abdomen. They may have a bone density scan. They may have skeletal and/or spine x-rays. They may have magnetic resonance imaging of the brain, low back, chest, and/or heart. They may be photographed. Participants may have other tests, such as sleep, brain and heart electrical activity, speech and swallow, metabolism, hearing, eye, and colon function tests. Participants may sign separate consent forms for some tests. Participation will last indefinitely. Participants may be contacted once in a while by phone or mail. They may have follow-up visits.

Who can participate

Age range

1 Month – 99 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Exclusion criteria

-Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Since this study is focused on understanding the clinical features, genetics, and environmental factors of RASopathies like Noonan syndrome or Costello syndrome — rather than testing a treatment — what would my or my child's participation actually involve, and would it interfere with our current care plan?
2This trial is described as 'Phase NA,' which suggests it's an observational or natural history study rather than a drug trial — does that mean there's no experimental treatment being given, and if so, what are the actual risks or burdens of joining?
3The study is collecting genetic information as part of understanding RASopathy conditions — how would our genetic data be stored, who could access it, and could findings from this study affect insurance or other areas of our life?
4Since this study is actively recruiting and covers multiple RASopathy diagnoses, could participation help identify something specific about my or my child's condition that isn't already known from standard clinical care, or is the benefit mainly to future research?
5Are there standard clinical evaluations or specialist referrals we should be pursuing right now that might be separate from or complementary to joining this research study?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

RASopathy Syndromes

Timeframe: ongoing

Clinical Phenotype

Timeframe: ongoing

Genetic and Environmental Interactions

Timeframe: ongoing

Trial details

NCT IDNCT04888936

SponsorNational Cancer Institute (NCI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2031-01-31

Contact for this trial

NCI Family Study Referrals

(800) 518-8474 ncifamilystudyreferrals@mail.nih.gov

View on ClinicalTrials.gov More Costello Syndrome trials

Plain-language summary

Who can participate

Age range

1 Month – 99 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Exclusion criteria

-Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.