Clinical trial NCT02432079: Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Official title: Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Heterotaxy Syndrome
Congenital Heart Defects
Keywords: Abnormalities, Multiple
Asplenia
Bilary Atresia
Birth Defect
Cardiovascular Abnormalities
Cardiovascular Diseases
Congenital Abnormalities
Congenital Heart Disease
Dextrocardia Syndrome
Disturbed Internal Organ Positioning
Genetics
Genetic Testing
Heart Defects, Congenital
Heart Diseases
Heterotaxy syndrome
Intestinal malrotation
Laterality
Left Atrial Isomerism
Pediatrics
Polysplenia
Right Atrial Isomerism
Splenic Diseases
Cilia
Situs inversus
Dextrocardia
Lead sponsor: Indiana University
Sponsor class: OTHER
First posted: 2015-05-01
Enrollment: 2000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: children affected with heterotaxy syndrome and/or congenital heart defects and their relatives

Brief summary: The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.

Detailed description: Heterotaxy syndrome is a rare birth defect that involves the heart and other organs. Many cases are genetic. Fundamental lack of information about the genetic basis of heterotaxy and related congenital heart defects in the vast majority of children has hindered management and therapy. The study outlined in this protocol is designed to obtain information about the causes of heterotaxy and related congenital heart defects. In this study, investigators will perform genetic analyses on patients with heterotaxy and related congenital heart defects, or individuals at risk for these abnormalities. The investigators will collect medical information related to symptoms and disease course. These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects.

Eligibility criteria: Inclusion Criteria:

* Subjects with heterotaxy and related congenital heart defects
* Family members of subjects with heterotaxy and related congenital heart defects

Exclusion Criteria:

* Subjects without heterotaxy and related congenital heart defects
* Family members of subjects without heterotaxy and related congenital heart defects

Primary outcomes:
measure: Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
timeFrame: 8 years
Secondary outcomes:
Other outcomes:
Locations:
city: Indianapolis
country: United States
facility: Indiana University School of Medicine
state: Indiana
Study officials:
affiliation: Indiana University School of Medicine
name: Stephanie M. Ware, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: