Ignite Creation Date:
2024-05-06 @ 4:08 PM
Last Modification Date:
2024-10-26 @ 2:04 PM
Study NCT ID:
NCT04888936
Status:
RECRUITING
Last Update Posted:
2024-06-10
First Post:
2021-05-14
Brief Title:
Clinical Genetic and Epidemiologic Study of Children and Adults With RASopathies
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Genetic and Epidemiologic Study of Children and Adults With RASopathies
Status:
RECRUITING
Status Verified Date:
2024-09-27
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 andor spine x-rays They may have magnetic resonance imaging of the brain low back chest andor 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
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 andor spine x-rays They may have magnetic resonance imaging of the brain low back chest andor 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
Detailed Description:
Study DescriptionTAB
The RASopathies are a clinically defined group of disorders caused by pathogenic germline variants in genes encoding components of the Rasmitogen-activated-protein kinase RasMAPK pathway These disorders have overlapping clinical features due to RasMAPK dysfunction including a predisposition to the development of certain malignancies The aims of this prospective longitudinal cohort study are to determine the incidence of malignancy in patients with RASopathies and determine the underlying differences in those who develop tumors as compared to those who do not in order to inform cancer screening recommendations In addition this longitudinal cohort study will provide a better understanding of non-tumor RASopathy manifestations
Objectives
Primary Objectives
To establish a longitudinal cohort of participants with a clinical diagnosis of a RASopathy andor a pathogenic germline variation in a RasMAPK pathway gene excluding NF1
To study the lifetime rates of cancer development in participants with a RASopathy
To longitudinally characterize germline RASopathy-related tumor and non-tumor clinical manifestations
Secondary Objectives
To create a biospecimen repository of carefully annotated tissue samples for use in subsequent etiologically oriented translational research projects
To describe novel phenotypes associated with germline RasMAPK pathway genetic variation
EndpointsTAB
Number of participants meeting enrollment criteria for inclusion in the RASopathy cohort
Development of RASopathy-associated neoplasms in patients with RASopathies other than neurofibromatosis type 1 NF1
Longitudinal standardized quantitative evaluations of specific RASopathy manifestations
The RASopathies are a clinically defined group of disorders caused by pathogenic germline variants in genes encoding components of the Rasmitogen-activated-protein kinase RasMAPK pathway These disorders have overlapping clinical features due to RasMAPK dysfunction including a predisposition to the development of certain malignancies The aims of this prospective longitudinal cohort study are to determine the incidence of malignancy in patients with RASopathies and determine the underlying differences in those who develop tumors as compared to those who do not in order to inform cancer screening recommendations In addition this longitudinal cohort study will provide a better understanding of non-tumor RASopathy manifestations
Objectives
Primary Objectives
To establish a longitudinal cohort of participants with a clinical diagnosis of a RASopathy andor a pathogenic germline variation in a RasMAPK pathway gene excluding NF1
To study the lifetime rates of cancer development in participants with a RASopathy
To longitudinally characterize germline RASopathy-related tumor and non-tumor clinical manifestations
Secondary Objectives
To create a biospecimen repository of carefully annotated tissue samples for use in subsequent etiologically oriented translational research projects
To describe novel phenotypes associated with germline RasMAPK pathway genetic variation
EndpointsTAB
Number of participants meeting enrollment criteria for inclusion in the RASopathy cohort
Development of RASopathy-associated neoplasms in patients with RASopathies other than neurofibromatosis type 1 NF1
Longitudinal standardized quantitative evaluations of specific RASopathy manifestations
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 20-C-0107 | None | None | None |