PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood

• Conditions: Central Alveolar Hypoventilation Syndrome
• Interventions: Device: CPAP

• Registration Number: NCT00652964
• Lead Sponsor: National Taiwan University Hospital

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2008-04-01
• Study First Submitted QC: 2008-04-03
• Study First Posted: 2008-04-04
• Study Start: 2009-09
• Status Verified: 2012-11
• Last Update Submitted: 2012-11-06
• Last Update Posted: 2012-11-08
• Primary Completion: 2012-12
• Study Completion: 2012-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• Members of familiar congenital central hypoventilation syndrome

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Exclusion Criteria

• Refuse to participate study

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Observation	CPAP	a family of congenital central hypoventilation syndrome

Primary Outcome Measures

Name	Time	Method
respiratory failure	cross sectional observation

Trial Locations

Locations (1)

Naitonal Taiwan University Hospital; 🇨🇳 Taipei, Taiwan