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

• Sponsor: National Taiwan University Hospital (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT00652964
• Collaborator: (none)
• Enrollment: 20
• Location: 1
• Duration (Months): 39
• Patients Per Site Per Month: 0.5

Study Details

Study Description

Brief Summary

Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome

Condition or Disease	Intervention/Treatment	Phase
Central Alveolar Hypoventilation Syndrome	Device: CPAP

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.

Study Design

• Study Type: Observational
• Anticipated Enrollment: 20 participants
• Observational Model: Family-Based
• Time Perspective: Cross-Sectional
• Official Title: PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
• Study Start Date: Sep 1, 2009
• Anticipated Primary Completion Date: Dec 1, 2012
• Anticipated Study Completion Date: Dec 1, 2012

Arms and Interventions

Arm	Intervention/Treatment
Observation a family of congenital central hypoventilation syndrome	Device: CPAP; CPAP treatment for patients with congenital central hypoventilation syndrome

Outcome Measures

Primary Outcome Measures

1. respiratory failure [cross sectional observation]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Inclusion Criteria:

• Members of familiar congenital central hypoventilation syndrome

Exclusion Criteria:

• Refuse to participate study

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Naitonal Taiwan University Hospital	Taipei		Taiwan	Taipei

Sponsors and Collaborators

• National Taiwan University Hospital

Investigators

• Principal Investigator: Peilin Lee, M.D, National Taiwan University Hospital

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: National Taiwan University Hospital
• ClinicalTrials.gov Identifier: NCT00652964
• Other Study ID Numbers: 200801064R
• First Posted: Apr 4, 2008
• Last Update Posted: Nov 8, 2012
• Last Verified: Nov 1, 2012

• Keywords provided by National Taiwan University Hospital: sleep apnea, PHOX2B, hypoventilation, polysomnography
• Additional relevant MeSH terms: Hypoventilation; Sleep Apnea, Central; Syndrome

Study Results

No Results Posted as of Nov 8, 2012