The Phenotyping and Genotyping of Taiwanese Patients With Obstructive Sleep Apnea

NCT02038751 | Unknown DMC

• 1 other identifier: 201306007RINB
• Study Type: observational
• Target: 360
• Locations: 1 country
• Sites: 1

Brief Summary

The growing evidence showed that the OSA is a heritable complex genetic disease where the genetic basis contributed the development of OSA and its sequel. The phenotyping of OSA include high level and intermediate level. The former indicates the AHI, and later includes craniofacial morphology, ventilator control, obesity, and sleepiness vulnerability. Many studies tried to determine the association of candidate genes with OSA through association studies. However, the results were conflicting. We identified 37 candidate genes involved in six biologic pathways of OSA reported in previous literatures, including oxidative phosphorylation, cell signaling, apoptosis, cellular adhesion and motility, cell cycle, and cytokine/chemokine. To investigate the association between phenotype and genotype of OSA, we conducted this cross-sectional study by recruiting the patients of moderate-severe OSA (index proband) and their first and second-degree family members, and friends and their family members (control family) and using candidate genes reported in the literature and whole genome SNP array for genotype approach.

Conditions

Sleep Apnea, Obstructive

Keywords

Genotyping; Phenotyping; Sleep Apnea; Genetic Association Studies; Phenotype

Outcome Measures

Primary Outcomes (2)

• Family aggregation of OSA and its phenotype

  Phenotypes assessment by PSG, craniofacial image, Hypercapnic ventilatory response testing, psychomotor vigilance task, MSLT, blood biochemistry testing, abdominal MRI, and 24 hr ambulatory BP monitor Family aggregation assessed by family-based study design (1. to compare risk of OSA between index and control proband; 2. to compare risk between index proband with more than one families suffering OSA and without; 3. to calculate inter-generation and intra-generation association index of AHI)

  within the first half year after enrollment

• Association between phenotype and genotype of OSA

  Genotypes assessed by candidate genes identification or whole genome SNP array Phenotypes assessment by PSG, craniofacial image, Hypercapnic ventilatory response testing, psychomotor vigilance task, MSLT, blood biochemistry testing, abdominal MRI, and 24 hr ambulatory BP monitor Association assessed by linkage study and association study

  within the first half year after enrollment

Study Arms (4)

Index proband

moderate to severe OSA (AHI\>30 or AHI\>15 needing CPAP intervention) age 20-99 y/o

Index family

first-degree, second-degree, or spouse of index proband age \>20 y/o

Control proband

friends of index proband, living in the same environment as index proband age \> 20 y/o

Control family

first-degree, second-degree, or spouse of control proband age \>20 y/o

Eligibility Criteria

• Age: 20 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

moderate to severe OSA from primary care clinic friends and families from recommendation of OSA patients

You may qualify if:

• all participants needing age \> 20 y/o
• Index proband: OSA diagnosed by overnight polysomnography (AHI\>30 or AHI\>15 needing therapeutic intervention)
• Index family: first-degree, second-degree relatives, or spouse of index proband
• Control proband: friends recommended by index proband, who lived in the same environment as index proband
• Control family: first-degree, second-degree relatives, or spouse of control proband

You may not qualify if:

• Severe CHF, COPD, CKD
• Psychiatric disorder who can't coordinate to receive evaluation
• Autoimmune disorders
• Other sleep disorders
• Refusing to anticipate or involving other study at the same time

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

Center of sleep disorders, National Taiwan University Hospital

Taipei, 100, Taiwan

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

whole blood and serum

MeSH Terms

Conditions

Sleep Apnea, Obstructive; Sleep Apnea Syndromes

Condition Hierarchy (Ancestors)

Apnea; Respiration Disorders; Respiratory Tract Diseases; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Nervous System Diseases

Study Officials

• Peilin Lee, M.D, Ph.D.

  Center of sleep disorders, National Taiwan University Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Peilin Lee, M.D, Ph.D.

CONTACT

886-972-651-763; leepeilin@ntu.edu.tw

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 15, 2014
• First Posted: January 17, 2014
• Study Start: January 1, 2014
• Primary Completion: December 1, 2016
• Study Completion: December 1, 2016
• Last Updated: January 17, 2014

Record last verified: 2014-01

Locations

TW (1)