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
|Condition or disease||Intervention/treatment|
|Central Alveolar Hypoventilation Syndrome||Device: CPAP|
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 Type :||Observational|
|Estimated Enrollment :||20 participants|
|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|
a family of congenital central hypoventilation syndrome
CPAP treatment for patients with congenital central hypoventilation syndrome
- respiratory failure [ Time Frame: cross sectional observation ]
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
|Contact: Peilin Lee, M.D.||+email@example.com|
|Naitonal Taiwan University Hospital||Recruiting|
|Taipei, Taiwan, Taipei|
|Contact: Peilin Lee, M.D. +886-2-23562905 firstname.lastname@example.org|
|Principal Investigator:||Peilin Lee, M.D||National Taiwan University Hospital|