Ignite Creation Date:
2024-05-05 @ 5:32 PM
Last Modification Date:
2024-10-26 @ 9:33 AM
Study NCT ID:
NCT00478712
Status:
RECRUITING
Last Update Posted:
2023-11-29
First Post:
2007-05-24
Brief Title:
Hirschsprung Disease Genetic Study
Sponsor:
NYU Langone Health
Organization:
NYU Langone Health
Study Overview
Official Title:
Genetic Analysis of Hirschsprung Disease
Status:
RECRUITING
Status Verified Date:
2024-09
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:
Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines This study will investigate the complex genetic basis of the disease which involves multiple interacting genetic factors
Detailed Description:
Hirschsprung disease HSCR is a birth defect resulting from the absence of nerve ganglion cells in the gastrointestinal tract Hirschsprung disease has a population incidence of 15000 live births and most often occurs as an isolated condition However approximately 30 of HSCR cases are associated with other birth defects such as Down syndrome deafness hypopigmentation and congenital central hypoventilation syndrome Hirschsprung disease is a genetic condition with autosomal dominant autosomal recessive and multigenic patterns of inheritance described
Dr Aravinda Chakravartis laboratory has been investigating the genetics of Hirschsprung disease HSCR for more than twenty five years The goal of this research study is to identify genes harboring causative HSCR mutations and to better understand the complex inheritance of HSCR in families by whole genome mapping and sequencing studies Specifically the study aims to determine the frequency with which mutations in any human gene lead to familial and isolated forms of HSCR Further the study will collect clinical information and investigate possible genotype - phenotype correlations
Molecular analysis using markers and sequencing and statistical analysis of these data will be used to identify regions of human chromosomes where putative HSCR disease genes may be located In addition the DNA sequence of known andor suspected HSCR genes will be assessed in individual patients and their family members in search of causative HSCR susceptibility variants and variants that may affect presentation of the disease and treatment outcomes Phenotypic information will include pathology surgical and other clinical outcomes related to Hirschsprung disease This study will hopefully lead to a better understanding of the genetics of HSCR and further down the road improved diagnosis treatment and genetic counseling
This study asks volunteers to
1 Complete a medicalfamily history questionnaire
2 Provide access to some medical records
3 Submit blood samples from the individuals affected with Hirschsprung disease and hisher parents if available
Dr Aravinda Chakravartis laboratory has been investigating the genetics of Hirschsprung disease HSCR for more than twenty five years The goal of this research study is to identify genes harboring causative HSCR mutations and to better understand the complex inheritance of HSCR in families by whole genome mapping and sequencing studies Specifically the study aims to determine the frequency with which mutations in any human gene lead to familial and isolated forms of HSCR Further the study will collect clinical information and investigate possible genotype - phenotype correlations
Molecular analysis using markers and sequencing and statistical analysis of these data will be used to identify regions of human chromosomes where putative HSCR disease genes may be located In addition the DNA sequence of known andor suspected HSCR genes will be assessed in individual patients and their family members in search of causative HSCR susceptibility variants and variants that may affect presentation of the disease and treatment outcomes Phenotypic information will include pathology surgical and other clinical outcomes related to Hirschsprung disease This study will hopefully lead to a better understanding of the genetics of HSCR and further down the road improved diagnosis treatment and genetic counseling
This study asks volunteers to
1 Complete a medicalfamily history questionnaire
2 Provide access to some medical records
3 Submit blood samples from the individuals affected with Hirschsprung disease and hisher parents if available
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