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

Central Alveolar Hypoventilation Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00652964
• Other study ID #: 200801064R
• Status: Recruiting
• Phase: N/A
• First received: April 1, 2008
• Last updated: November 6, 2012
• Start date: September 2009
• Est. completion date: December 2012

Study information

• Verified date: November 2012
• Source: National Taiwan University Hospital
• Contact: Peilin Lee, M.D.
• Phone: +886-2-23562905
• Email: leepeilin[@]ntu.edu.tw
• Is FDA regulated: No
• Health authority: Taiwan: Department of Health
• Study type: Observational

Clinical Trial Summary

Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: December 2012
• Est. primary completion date: December 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Members of familiar congenital central hypoventilation syndrome

Exclusion Criteria:

• Refuse to participate study

Study Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Central Alveolar Hypoventilation Syndrome
• Hemosiderosis
• Hypoventilation
• Lung Diseases
• Sleep Apnea, Central
• Syndrome

Intervention

Device:
• CPAP
CPAP treatment for patients with congenital central hypoventilation syndrome

Locations

Country	Name	City	State
Taiwan	Naitonal Taiwan University Hospital	Taipei

Sponsors (1)

Lead Sponsor	Collaborator
National Taiwan University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	respiratory failure		cross sectional observation	No