SCOR in Neurobiology of Sleep--Intermediate Traits for Sleep Apnea

Lung Diseases Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00005511
• Other study ID #: 5029
• Secondary ID: P50HL060287
• Status: Completed
• Phase: N/A
• First received: May 25, 2000
• Last updated: January 19, 2016
• Start date: September 1998

Study information

• Verified date: January 2016
• Source: University of Pennsylvania
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial Summary

To determine intermediate traits for sleep apnea in a case-control study.

Description:

BACKGROUND:

Sleep apnea is a common condition that affects 4 percent of middle-aged males and 2 percent of middle-aged females. There is recent evidence that there is a genetic influence because first degree relatives of patients with this disorder have an increased risk of having obstructive sleep apnea. The basis for this increased familial risk is undefined. The investigators postulated that there were three specific intermediate traits, each of which reduced upper airway size, thereby increasing the risk of sleep apnea. These intermediate traits included: a) particular distribution of fat in the neck; b) craniofacial structure; and c) size of critical soft tissues in the airway (soft palate, tongue, lateral pharyngeal walls). All of these risk factors could be assessed quantitatively using advanced magnetic resonance imaging and novel volumetric image analysis techniques that had been developed..

The study was one project within a Specialized Center of Research in Neurobiology of Sleep and Sleep Apnea.

DESIGN NARRATIVE:

The case-control study identified the structural risk factors for sleep apnea. The study was complemented by studies in siblings of the patients and controls in order to identify those traits that demonstrated family aggregation not explained by shared environmental factors. The investigators believed that these structural risk factors would interact to increase the risk of sleep apnea. The elucidation of upper airway structural risk factors should provide the basis for developing new, more effective techniques for screening patients for sleep apnea and provide the basis for performing future DNA analyses aimed at identifying the genetic loci for these risk factors.

The specific aims were: 1) to quantify upper airway craniofacial structure, soft tissues and regional fat deposition using three dimensional magnetic resonance imaging in order to determine the intermediate traits associated with obstructive sleep apnea utilizing a case control design in normals and apneics; and 2) to determine the upper airway structural risk factors for sleep apnea that demonstrated family aggregation and were most likely to have a genetic component by comparing probands, siblings of probands, neighborhood controls and siblings of neighborhood controls. The resources included an extensive clinical sleep practice, sophisticated NM imaging techniques, novel volumetric computer graphics image analysis and expertise in molecular epidemiology, craniofacial structure, and the genetics of obesity.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 0
• Est. primary completion date: August 2003
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 100 Years
• Eligibility: No eligibility criteria

Study Design

N/A

Related Conditions & MeSH terms

• Lung Diseases
• Sleep Apnea Syndromes

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
University of Pennsylvania	National Heart, Lung, and Blood Institute (NHLBI)

References & Publications (4)

Schellenberg JB, Maislin G, Schwab RJ. Physical findings and the risk for obstructive sleep apnea. The importance of oropharyngeal structures. Am J Respir Crit Care Med. 2000 Aug;162(2 Pt 1):740-8. — View Citation

Schwab RJ, Pasirstein M, Pierson R, Mackley A, Hachadoorian R, Arens R, Maislin G, Pack AI. Identification of upper airway anatomic risk factors for obstructive sleep apnea with volumetric magnetic resonance imaging. Am J Respir Crit Care Med. 2003 Sep 1;168(5):522-30. Epub 2003 May 13. — View Citation

Schwab RJ. Imaging for the snoring and sleep apnea patient. Dent Clin North Am. 2001 Oct;45(4):759-96. Review. — View Citation

Welch KC, Foster GD, Ritter CT, Wadden TA, Arens R, Maislin G, Schwab RJ. A novel volumetric magnetic resonance imaging paradigm to study upper airway anatomy. Sleep. 2002 Aug 1;25(5):532-42. — View Citation