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Sponsored by: |
National Taiwan University Hospital |
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Information provided by: | National Taiwan University Hospital |
ClinicalTrials.gov Identifier: | NCT00652964 |
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
Condition | Intervention |
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Central Alveolar Hypoventilation Syndrome |
Device: CPAP |
Study Type: | Observational |
Study Design: | Family-Based, Cross-Sectional |
Official Title: | PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood |
Estimated Enrollment: | 20 |
Study Start Date: | February 2008 |
Estimated Primary Completion Date: | January 2009 (Final data collection date for primary outcome measure) |
Groups/Cohorts | Assigned Interventions |
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Observation
a family of congenital central hypoventilation syndrome
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Device: CPAP
CPAP treatment for patients with congenital central hypoventilation syndrome
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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.
Results: The index patient and four offsprings demonstrated features of central hypoventilation. The index patients had hypoxia and hypercapnia while awake and breathing room air, nocturnal hypoventilation with nadir SpO2 of 50%, and polycythemia with hematocrit 70%. The first and fourth children had frequent cyanotic spells after birth and died of respiratory failure. The second and third children remained asymptomatic till adulthood but had decreased hypercapnic ventilatory response. The third child had nocturnal hypoventilation with nadir SpO2 of 59%. PHOX2B gene five alanine expansions were detected in all affected living subjects, including the index patient and two (second and third) children.
Conclusions: Our study confirms that the transmission of late-onset CCHS is autosomal-dominant and genetic screening of family members for CCHS probands allows for early diagnosis and treatment.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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.
Inclusion Criteria:
Exclusion Criteria:
Contact: Peilin Lee, M.D. | +886-2-23562905 | leepeilin@ntu.edu.tw |
Taiwan | |
Naitonal Taiwan University Hospital | Recruiting |
Taipei, Taiwan, Taipei | |
Contact: Peilin Lee, M.D. +886-2-23562905 leepeilin@ntu.edu.tw |
Responsible Party: | National Taiwan University Hospital ( Peilin Lee/attending physician ) |
Study ID Numbers: | 200801064R |
Study First Received: | April 1, 2008 |
Last Updated: | April 3, 2008 |
ClinicalTrials.gov Identifier: | NCT00652964 |
Health Authority: | Taiwan: Department of Health |
sleep apnea, PHOX2B, hypoventilation, polysomnography Decreption for members of a Chinese family of congenital central hypoventilation syndrome |
Sleep Apnea Syndromes Apnea Respiration Disorders Hypoventilation Sleep Disorders Dyssomnias Sleep Disorders, Intrinsic Signs and Symptoms |
Respiratory Insufficiency Respiratory Tract Diseases Mental Disorders Sleep Apnea, Central Idiopathic pulmonary hemosiderosis Congenital central hypoventilation syndrome Signs and Symptoms, Respiratory |
Pathologic Processes Disease Syndrome Nervous System Diseases |