Status:
UNKNOWN
PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
Lead Sponsor:
National Taiwan University Hospital
Conditions:
Central Alveolar Hypoventilation Syndrome
Eligibility:
All Genders
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 mutatio...
Eligibility Criteria
Inclusion
- Members of familiar congenital central hypoventilation syndrome
Exclusion
- Refuse to participate study
Key Trial Info
Start Date :
September 1 2009
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2012
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT00652964
Start Date
September 1 2009
End Date
December 1 2012
Last Update
November 8 2012
Active Locations (1)
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1
Naitonal Taiwan University Hospital
Taipei, Taiwan, Taipei