Trial record 3 of 4 for:    "congenital central hypoventilation syndrome"

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2012 by National Taiwan University Hospital
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital
ClinicalTrials.gov Identifier:
NCT00652964
First received: April 1, 2008
Last updated: November 6, 2012
Last verified: November 2012
  Purpose

Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome


Condition Intervention
Central Alveolar Hypoventilation Syndrome
Device: CPAP

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by National Taiwan University Hospital:

Primary Outcome Measures:
  • respiratory failure [ Time Frame: cross sectional observation ] [ Designated as safety issue: No ]

Estimated Enrollment: 20
Study Start Date: September 2009
Estimated Study Completion Date: December 2012
Estimated Primary Completion Date: December 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Observation
a family of congenital central hypoventilation syndrome
Device: CPAP
CPAP treatment for patients with 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 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.

  Eligibility

Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00652964

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

Locations
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
Principal Investigator: Peilin Lee, M.D National Taiwan University Hospital
  More Information

No publications provided

Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT00652964     History of Changes
Other Study ID Numbers: 200801064R
Study First Received: April 1, 2008
Last Updated: November 6, 2012
Health Authority: Taiwan: Department of Health

Keywords provided by National Taiwan University Hospital:
sleep apnea, PHOX2B, hypoventilation, polysomnography

Additional relevant MeSH terms:
Sleep Apnea, Central
Hypoventilation
Respiratory Insufficiency
Sleep Disorders, Intrinsic
Sleep Apnea Syndromes
Apnea
Respiration Disorders
Respiratory Tract Diseases
Dyssomnias
Sleep Disorders
Nervous System Diseases
Signs and Symptoms, Respiratory
Signs and Symptoms
Mental Disorders

ClinicalTrials.gov processed this record on July 28, 2014