Ignite Creation Date:
2024-05-06 @ 3:32 PM
Last Modification Date:
2024-10-26 @ 1:51 PM
Study NCT ID:
NCT04664478
Status:
RECRUITING
Last Update Posted:
2024-05-09
First Post:
2020-12-10
Brief Title:
Gene First Approach to Connective Tissue Disease
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Natural History Study Gene First Approach to Connective Tissue Disease
Status:
RECRUITING
Status Verified Date:
2024-09-26
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
Elastic fibers affect parts of the body that stretch repetitively such as the skin blood vessels and lungs Researchers want to use medical and research tests in patients with already identified changes in a set of connective tissue genes to better understand diseases related to elastic fibers
Objective
To learn more about the impact of underlying changes in a set of connective tissue genes on people s overall health
Eligibility
People ages 2-100 who have had a gene test that identified a change in a gene that affects elastic fibers Initial emphasis will be placed on people with changes in ELN LOX MFAP4 FBLN5 and EFEMP2
Design
Participants will visit the NIH for several days to perform tests that will help researchers learn more about how changes in connective tissue genes affect a person s health They will also have clinicians take their medical history and physical exam Optional tests include giving blood samples hair strand urine andor saliva samples They may have a cheek swab or skin biopsy Their genes may be studied Their cells may be grown in a laboratory Participants may have photographs taken of the face and body
They will receive exams by a medical team with experience in connective tissue disease They may have a dental exam or eye exams and with photography During the eye exam pictures may be taken of the blood vessels in the eyes If this occurs they will get dye through an intravenous IV line in an arm vein
They will also have medical tests to check the health of tissues that may be affected by these connective tissue genes Participants may have lung function tests They may have a six-minute walk test They may complete a treadmill or bike stress test Their heart s electrical activity may be recorded Participants may have X-rays and ultrasounds They may have a DEXA scan to measure bone density They may have CT MRI or other imaging scans Some of these tests require the participant to get a contrast fluid via IV
Participants may have a skin elasticity test using a suction cup that pulls lightly on their skin
Participants may wear blood pressure cuffs while probes are placed on their skin The tests will be chosen for each individual based on their specific gene change and no person is expected to complete all tests Participation will last 3-5 days
Elastic fibers affect parts of the body that stretch repetitively such as the skin blood vessels and lungs Researchers want to use medical and research tests in patients with already identified changes in a set of connective tissue genes to better understand diseases related to elastic fibers
Objective
To learn more about the impact of underlying changes in a set of connective tissue genes on people s overall health
Eligibility
People ages 2-100 who have had a gene test that identified a change in a gene that affects elastic fibers Initial emphasis will be placed on people with changes in ELN LOX MFAP4 FBLN5 and EFEMP2
Design
Participants will visit the NIH for several days to perform tests that will help researchers learn more about how changes in connective tissue genes affect a person s health They will also have clinicians take their medical history and physical exam Optional tests include giving blood samples hair strand urine andor saliva samples They may have a cheek swab or skin biopsy Their genes may be studied Their cells may be grown in a laboratory Participants may have photographs taken of the face and body
They will receive exams by a medical team with experience in connective tissue disease They may have a dental exam or eye exams and with photography During the eye exam pictures may be taken of the blood vessels in the eyes If this occurs they will get dye through an intravenous IV line in an arm vein
They will also have medical tests to check the health of tissues that may be affected by these connective tissue genes Participants may have lung function tests They may have a six-minute walk test They may complete a treadmill or bike stress test Their heart s electrical activity may be recorded Participants may have X-rays and ultrasounds They may have a DEXA scan to measure bone density They may have CT MRI or other imaging scans Some of these tests require the participant to get a contrast fluid via IV
Participants may have a skin elasticity test using a suction cup that pulls lightly on their skin
Participants may wear blood pressure cuffs while probes are placed on their skin The tests will be chosen for each individual based on their specific gene change and no person is expected to complete all tests Participation will last 3-5 days
Detailed Description:
Study Description
This protocol will allow deep phenotyping of patients with underlying gene variation in a set of connective tissue genes see Appendix A for list to both quantify risk of specific disease features and to describe novel phenotypes attributable to gene variation
Study Objectives
Primary Objective Phenotypic description for patients with known variation in specified connective tissue genes
Secondary Objective Within and across gene correlation of variant type with specific phenotype outcomes
Endpoints
Primary Endpoint We will quantify the frequency of a set phenotypic observations for patients with variation in specified connective tissue genes Organ systems under evaluation are those predicted to be affected based on gene expression or previous medical record investigations by our collaborators at Geisinger Health System
Secondary Endpoint We will compare the frequency of specified phenotypes within genes in patients with specific genotypes and across connective tissue genes Different variation type stop gain vs missense or location in or out of a functional domain has the potential to cause different phenotypic outcomes Likewise variation in genes impacting the same pathways may have overlapping phenotypesoutcomes
This protocol will allow deep phenotyping of patients with underlying gene variation in a set of connective tissue genes see Appendix A for list to both quantify risk of specific disease features and to describe novel phenotypes attributable to gene variation
Study Objectives
Primary Objective Phenotypic description for patients with known variation in specified connective tissue genes
Secondary Objective Within and across gene correlation of variant type with specific phenotype outcomes
Endpoints
Primary Endpoint We will quantify the frequency of a set phenotypic observations for patients with variation in specified connective tissue genes Organ systems under evaluation are those predicted to be affected based on gene expression or previous medical record investigations by our collaborators at Geisinger Health System
Secondary Endpoint We will compare the frequency of specified phenotypes within genes in patients with specific genotypes and across connective tissue genes Different variation type stop gain vs missense or location in or out of a functional domain has the potential to cause different phenotypic outcomes Likewise variation in genes impacting the same pathways may have overlapping phenotypesoutcomes
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-H-0158 | None | None | None |