Clinical Trial: PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational
Official Title: PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
Brief Summary: Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
Detailed Summary:
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.
Sponsor: National Taiwan University Hospital
Current Primary Outcome: respiratory failure [ Time Frame: cross sectional observation ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Taiwan University Hospital
Dates:
Date Received: April 1, 2008
Date Started: September 2009
Date Completion: December 2012
Last Updated: November 6, 2012
Last Verified: November 2012
