Ignite Creation Date:
2024-05-05 @ 11:40 AM
Last Modification Date:
2024-10-26 @ 9:11 AM
Study NCT ID:
NCT00105274
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2005-03-10
Brief Title:
Velocardiofacial VCFS 22q112 DiGeorge Syndrome Study
Sponsor:
National Institute of Mental Health NIMH
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q112-Hemideletion Syndrome
Status:
COMPLETED
Status Verified Date:
2010-02-02
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:
Velocardiofacial syndrome also known as 22q112 syndrome or DiGeorge syndrome has been associated with many features such as a cleft palate heart defects and learning speech and feeding problems It is caused by the absence of a number of genes on chromosome 22 but the mechanism by which this inborn abnormality causes the clinical problems is not known
In this study by the National Institute of Mental Health and the Office of Rare Diseases we are recruiting participants with 22q112 syndrome to come for a three-day stay to our main campus in Bethesda MD to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging The goal of this study is to understand how the genes missing in 22q112 syndrome are related to the increased occurrence of psychiatric problems such as psychosis in this syndrome Participants must be 18-50 years of age have some high school education and not currently be taking antipsychotic medication Travel costs to Bethesda for participants and an accompanying person will be paid and participants are reimbursed for their time in participating in the study A blood draw is required All research procedures have been designated as minimal risk procedures
In this study by the National Institute of Mental Health and the Office of Rare Diseases we are recruiting participants with 22q112 syndrome to come for a three-day stay to our main campus in Bethesda MD to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging The goal of this study is to understand how the genes missing in 22q112 syndrome are related to the increased occurrence of psychiatric problems such as psychosis in this syndrome Participants must be 18-50 years of age have some high school education and not currently be taking antipsychotic medication Travel costs to Bethesda for participants and an accompanying person will be paid and participants are reimbursed for their time in participating in the study A blood draw is required All research procedures have been designated as minimal risk procedures
Detailed Description:
22q112 DiGeorge MIM188400 Velocardiofacial MIM192430 syndrome is a hemizygous microdeletion on 22q112 of typically 3Mb encompassing approximately 30 genes and mediated by aberrant homologous recombination and unequal crossing-over events between intrachromosomal flanking low-copy repeats LCRs The incidence is 14000 live births While somatic symptoms include congenital cardiovascular and craniofacial abnormalities recurrent infections and hypocalcemia1 the most prevalent group of symptoms are neuropsychiatric and include cognitive dysfunction with mild mental retardation behavioral difficulties and psychosis The syndrome is associated with a lifetime prevalence of schizophrenia-like illness phenotypically mostly similar to sporadic schizophrenia of approximately 25 times that of the general population making the presence of this hemideletion the strongest known risk factor for the development of schizophrenia excepting the presence of a monozygotic twin with the illness The 22q11 region is implicated in the risk architecture of schizophrenia by several linkage studies and harbors a number of proposed susceptibility genes including genes for Catechol-O-methyltransferase COMT proline dehydrogenase PRODH and ZDHHC8 The neural basis of these pronounced neurocognitive and psychiatric abnormalities is unknown The present work proposes to a study a group of exceptionally high-functioning normal intelligence psychosis-free individuals with 21q112 syndrome using a hierarchical multimodal imaging approach to define the intermediate systems level phenotype of the disease combined with deletion mapping techniques and b to study the functional effects of single nucleotide polymorphisms in genes in the hemideleted region that have been implicated in schizophrenia taking advantage of the unique fact that the hemizygous deletion allows immediate construction of molecular haplotypes and of potential epistatic allelic effects This work is expected to a elucidate the pathophysiology of the CNS manifestations of the 22q112 syndrome and yield a brain intermediate phenotype that will allow studies in small and atypical deletion individuals in an effort to define individual genes responsible for neurocognitive deficit and increased risk for psychosis b facilitate the identification of functional mechanisms underlying increased risk for schizophrenia for individual susceptibility genes in the deletion and for interacting risk alleles within the deleted locus and c prepare the ground for a clinical protocol in which the results from a and b can be applied to a prospective study evaluating early diagnostic and interventional approaches based on genetic risk and intermediate phenotype ascertainment in this group of patients at high risk for the development of psychosis
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
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-M-0110 | None | None | None |