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

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ClinicalTrials.gov Identifier: NCT00652964
Recruitment Status : Unknown
Verified November 2012 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
First Posted : April 4, 2008
Last Update Posted : November 8, 2012
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital

Study Description
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Brief Summary:
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome

Condition or disease Intervention/treatment
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
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Study Type : Observational
Estimated 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 : September 2009
Estimated Primary Completion Date : December 2012
Estimated Study Completion Date : December 2012

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Groups and Cohorts
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Group/Cohort Intervention/treatment
Observation
a family of congenital central hypoventilation syndrome
 Device: CPAP
CPAP treatment for patients with congenital central hypoventilation syndrome


Outcome Measures
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Primary Outcome Measures :
  1. respiratory failure [ Time Frame: cross sectional observation ]

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
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.
Criteria

Inclusion Criteria:

  • Members of familiar congenital central hypoventilation syndrome

Exclusion Criteria:

  • Refuse to participate study
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00652964


Contacts
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Contact: Peilin Lee, M.D. +886-2-23562905 leepeilin@ntu.edu.tw

Locations
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Taiwan
Naitonal Taiwan University Hospital Recruiting
Taipei, Taiwan, Taipei
Contact: Peilin Lee, M.D.    +886-2-23562905    leepeilin@ntu.edu.tw   
Sponsors and Collaborators
National Taiwan University Hospital
Investigators
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Principal Investigator: Peilin Lee, M.D National Taiwan University Hospital
More Information
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Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT00652964    
Other Study ID Numbers: 200801064R
First Posted: April 4, 2008    Key Record Dates
Last Update Posted: November 8, 2012
Last Verified: November 2012
Keywords provided by National Taiwan University Hospital:
sleep apnea, PHOX2B, hypoventilation, polysomnography
Additional relevant MeSH terms:
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Hypoventilation
Sleep Apnea, Central
Syndrome
Disease
Pathologic Processes
Respiratory Insufficiency
Respiration Disorders
Respiratory Tract Diseases
 Signs and Symptoms, Respiratory
Signs and Symptoms
Sleep Apnea Syndromes
Apnea
Sleep Disorders, Intrinsic
Dyssomnias
Sleep Wake Disorders
Nervous System Diseases