Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001404
Status:
COMPLETED
Last Update Posted:
2019-12-16
First Post:
1999-11-03
Brief Title:
Phenotype and Etiology of Pallister-Hall Syndrome
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic and Clinical Studies of Congenital Anomaly Syndromes
Status:
COMPLETED
Status Verified Date:
2016-01-07
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:
We aim to delineate the range of severity natural history molecular etiology and pathophysiology of Pallister-Hall syndrome PHS Greig cephalopolysyndactyly syndrome GCPS McKusick-Kaufman syndrome MKS Bardet-Biedl syndrome BBS Oro-facial digital syndromes OFDs and other overlapping phenotypes These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder Specimens will be collected and evaluated in the laboratory by linkage analysis physical mapping candidate gene characterization mutation screening and cell biologic studies of normal mutant proteins
Detailed Description:
We aim to use the power of modern molecular genetics and clinical research to delineate the
range of severity natural history molecular etiology and pathophysiology of a number of
congenital anomaly syndromes The goal of the research is to develop a knowledge base that allows proper clinical and molecular diagnosis of patients with rare congenital anomaly
disorders Our paradigm is the previous work we have done with Pallister-Hall syndrome PHS and Greig cephalopolysyndactyly syndrome GCPS where we have successfully used a combined clinical-molecular approach Using this strategy we have brought 50-100 patients or families with these disorders to the NIH clinical center NIH CC for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder We have also clinically andor molecularly evaluated many additional patients with atypical or non-classic presentations of PHS and GCPS and have conducted exploratory studies of other phenotypes to determine how they might fit into the more general models generated to explain PHS and GCPS We are currently generalizing this approach to a number of disorders including talipes equinovarus atrial septal defect Robin sequence and persistent left superior vena cava TARP syndrome Specimens from patients participating in both the laboratory and clinical arms of the protocol will be collected and evaluated in the laboratory by linkage analysis physical mapping candidate gene characterization mutation screening and targeted exome sequencing and cell biologic studies of normal and mutant proteins
range of severity natural history molecular etiology and pathophysiology of a number of
congenital anomaly syndromes The goal of the research is to develop a knowledge base that allows proper clinical and molecular diagnosis of patients with rare congenital anomaly
disorders Our paradigm is the previous work we have done with Pallister-Hall syndrome PHS and Greig cephalopolysyndactyly syndrome GCPS where we have successfully used a combined clinical-molecular approach Using this strategy we have brought 50-100 patients or families with these disorders to the NIH clinical center NIH CC for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder We have also clinically andor molecularly evaluated many additional patients with atypical or non-classic presentations of PHS and GCPS and have conducted exploratory studies of other phenotypes to determine how they might fit into the more general models generated to explain PHS and GCPS We are currently generalizing this approach to a number of disorders including talipes equinovarus atrial septal defect Robin sequence and persistent left superior vena cava TARP syndrome Specimens from patients participating in both the laboratory and clinical arms of the protocol will be collected and evaluated in the laboratory by linkage analysis physical mapping candidate gene characterization mutation screening and targeted exome sequencing and cell biologic studies of normal and mutant proteins
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 |
|---|---|---|---|
| 94-HG-0193 | None | None | None |