Ignite Creation Date:
2024-05-05 @ 7:23 PM
Last Modification Date:
2024-10-26 @ 9:47 AM
Study NCT ID:
NCT00652964
Status:
UNKNOWN
Last Update Posted:
2012-11-08
First Post:
2008-04-01
Brief Title:
PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family Presentations From Newborn to Adulthood
Sponsor:
National Taiwan University Hospital
Organization:
National Taiwan University Hospital
Study Overview
Official Title:
PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family Presentations From Newborn to Adulthood
Status:
UNKNOWN
Status Verified Date:
2012-11
Last Known Status:
RECRUITING
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:
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
Detailed Description:
Background Congenital central hypoventilation syndrome CCHS is characterized by compromised chemo-reflexes that results in hypoventilation during sleep Recently a heterozygous PHOX2B gene mutation was identified in CCHS This report was made to increase physicians awareness of this rare disease
Methods A Chinese family of CCHS with presentations from newborn to adulthood and genetic analysis confirming the PHOX2B mutation was analyzed After identifying central hypoventilation in an adult male index case clinical evaluation was performed on the complete family which consisted of the parents five siblings and five offsprings In addition pulmonary function test overnight polysomnography arterial blood gas and hypercapnia ventilatory response and genetic screening for PHOX2B gene mutations were performed on living family members
Methods A Chinese family of CCHS with presentations from newborn to adulthood and genetic analysis confirming the PHOX2B mutation was analyzed After identifying central hypoventilation in an adult male index case clinical evaluation was performed on the complete family which consisted of the parents five siblings and five offsprings In addition pulmonary function test overnight polysomnography arterial blood gas and hypercapnia ventilatory response and genetic screening for PHOX2B gene mutations were performed on living family members
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