Ignite Creation Date:
2024-10-26 @ 3:40 PM
Last Modification Date:
2024-10-26 @ 3:40 PM
Study NCT ID:
NCT06595940
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-09-13
Brief Title:
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Genomic Sequencing for Evaluation of Uncommon Disease Manifestations Through the Childhood Complex Disease Genomic Section
Status:
RECRUITING
Status Verified Date:
2024-09-23
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Background
Genetics research over the past 20 years has helped researchers find the causes of many diseases More powerful tools for genetic testing now exist Researchers want to use these new tools to learn more about genetic diseases They want to look for possible genetic causes of unusual diseases They will focus on people who live outside of the United States and whose access to genetic testing has been limited
Objective
To look for potential genetic sources of diseases among children and their families
Eligibility
Children aged 2 to 18 years and their related family members who have or may have a genetic disease They will reside primarily outside of the US
Design
Participants will be recruited at sites outside of the US Participants will be screened Their existing medical records will be reviewed They will have a physical exam They will answer questions about their family history and symptoms Participants will provide samples for genetic testing They may have blood drawn They may spit saliva into a small container They may have a cotton swab rubbed on the inside of the mouth The samples will be shipped to the NIH for genetic testing Participants will be notified if testing reveals a known disease Participants may be asked to provide new samples to confirm the diagnosis Local study teams will contact the participants about the results Participants will also be notified if analysis yields gene variants that may cause disease
Genetics research over the past 20 years has helped researchers find the causes of many diseases More powerful tools for genetic testing now exist Researchers want to use these new tools to learn more about genetic diseases They want to look for possible genetic causes of unusual diseases They will focus on people who live outside of the United States and whose access to genetic testing has been limited
Objective
To look for potential genetic sources of diseases among children and their families
Eligibility
Children aged 2 to 18 years and their related family members who have or may have a genetic disease They will reside primarily outside of the US
Design
Participants will be recruited at sites outside of the US Participants will be screened Their existing medical records will be reviewed They will have a physical exam They will answer questions about their family history and symptoms Participants will provide samples for genetic testing They may have blood drawn They may spit saliva into a small container They may have a cotton swab rubbed on the inside of the mouth The samples will be shipped to the NIH for genetic testing Participants will be notified if testing reveals a known disease Participants may be asked to provide new samples to confirm the diagnosis Local study teams will contact the participants about the results Participants will also be notified if analysis yields gene variants that may cause disease
Detailed Description:
Study Description
We plan to couple novel techniques of genomic interrogation with more traditional methods involved in genetic discovery to investigate a broad range of diseases and conditions in locations without access to medical genetics for which there exists strong evidence that genetic factors are contributory
Objectives
Primary Objective To investigate the genetic contribution to conditions displaying unconventional clinical phenotypesfamilial segregation among individuals belonging to historically underrepresented populations
Secondary Objective To develop an international collaborative network across countries with limited or no access to medical genetics
TertiaryExploratory Objective To identify the psychosocial impact and cultural considerations of the diagnostic odyssey in countries without medical genetics access to better inform genetic counseling practices for these populations
Endpoints
Primary Endpoint Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes
Secondary Endpoint Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics
TertiaryExploratory Endpoint Elucidation of psychosocial impact and cultural considerations for patients with limited access to medical genetics
We plan to couple novel techniques of genomic interrogation with more traditional methods involved in genetic discovery to investigate a broad range of diseases and conditions in locations without access to medical genetics for which there exists strong evidence that genetic factors are contributory
Objectives
Primary Objective To investigate the genetic contribution to conditions displaying unconventional clinical phenotypesfamilial segregation among individuals belonging to historically underrepresented populations
Secondary Objective To develop an international collaborative network across countries with limited or no access to medical genetics
TertiaryExploratory Objective To identify the psychosocial impact and cultural considerations of the diagnostic odyssey in countries without medical genetics access to better inform genetic counseling practices for these populations
Endpoints
Primary Endpoint Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes
Secondary Endpoint Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics
TertiaryExploratory Endpoint Elucidation of psychosocial impact and cultural considerations for patients with limited access to medical genetics
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None