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Lung DiseasesNCT00005299

Familial Aggregation and Natural History of Sleep Apnea

An observational study of Lung Diseases and Sleep Apnea Syndromes, run by Brigham and Women's Hospital.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

To quantify the influence of genetic and environmental factors on the development of sleep apnea. Read more about this study

Who is it for?
Any ageHealthy volunteers can take part
Conditions the study is for
Lung Diseases, Sleep Apnea Syndromes
How many people
726 participants
Where
No sites listed yet
Study dates
Aug 1990to Mar 2008
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • Healthy volunteers accepted
  • Child, Adult, Older adult

Study population: Probands with sleep apnea and family members; neighborhood control families

sleep apnea, or family member or neighbor of proband

About this study

To quantify the influence of genetic and environmental factors on the development of sleep apnea.

Read the detailed description

BACKGROUND:

In 1990, there was increased recognition that obstructive sleep apnea occurs commonly and may lead to serious adverse cardiopulmonary and psychoneurologic health effects. In subjects with numerous and prolonged apneas, nocturnal hypoxemia and disrupted sleep may lead to pulmonary hypertension, cor pulmonale, and excessive daytime sleepiness. Systemic hypertension is more prevalent in subjects with obstructive sleep apnea than in the general population. The health consequences of less severe disease have not been extensively studied in the context of general population studies. However, snoring, a symptom related to sleep apnea, may double the risk of ischemic heart disease. The prevalence of systemic hypertension is higher in snorers than in nonsnorers, a finding potentially of considerable public health concern. An increased number of deaths due to cardiovascular disease in elderly subjects with disordered breathing during sleep also has been demonstrated.

DESIGN NARRATIVE:

The study is cross-sectional and longitudinal in design. Index cases were identified through the Rhode Island Hospital Sleep Laboratory and controls through local industry. During home visits, questionnaire data on symptoms, medical history, and exposures were collected and the following measurements made: blood pressure, height, weight, and spirometry. Structural assessment of the upper airway was made by a brief physical examination, and facial structure was documented with a lateral photograph. Airflow, chest wall movement, oxygen saturation, and heart rate during sleep were recorded with an ambulatory monitoring device. Observations in the field were confirmed and extended with laboratory studies on a sample of families who demonstrated the greatest and the least concordance for sleep-related respiratory disturbances. These subjects had a more detailed assessment of upper airway structure with cephalometry and posterior rhinometry, assessment of ventilatory control with responses to chemical and resistive loading, and assessment of sleep staging with in-hospital polysomnography. Familial correlations with and without adjustment for specific risk factors were computed. These analyses allowed: a determination of the risk of development of sleep apnea due to familial factors; an improved understanding of the influences of genetic and acquired risk factors and their interactions on the development of sleep apnea: and characterization of a generally healthy population at increased risk for sleep apnea that were studied subsequently both longitudinally in natural history studies and with molecular genetic markers in pedigree studies.

The study was renewed in FY 1996. The cohort was expanded by the addition of 85 families identified through an affected proband, leading to a total of 300 families. These new cohort members were characterized in the fashion similar to that previously used. Follow-up was conducted on those initially recruited for apnea levels, blood pressure, body fat distribution, cranial facial dimensions, pulmonary function, and other factors of interest. For 450 of the individuals, follow-up extended through nine years. A nested case-control study was also conducted that included 24-hour ambulatory blood pressure monitoring and echocardiography. A principal analytic tool was variance component modeling.

The study was renewed in FY 2001 through March, 2005. Further studies will be conducted in the cohort of 2,200 who had previously undergone overnight sleep studies. A total of 700 cohort members from families with sleep apnea, most of whom had a genome scan performed, will undergo additional physiological and biochemical measurements and longitudinal follow-up to derive detailed phenotypic characterization of sleep apnea and related cardiovascular disease risk factors and subclinical disease. Newly available technology will be used to quantify specific and sensitive indices of obstructive breathing parameters and sleep fragmentation. Subjects will also undergo a biochemical profile and evaluations of vascular functions, including assessment of novel cardiovascular disease risk factors that may be related to sleep apnea based on common genes or their role as indices of sleep apnea disease severity.

Medical subject headings
Lung Diseases, Sleep Apnea Syndromes

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Sleep Apnea

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted26 May 2000 (estimated)
  2. Study startAug 1990
  3. Primary completionMar 2008
  4. Study completionMar 2008

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
726 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT00005299
Sponsor's protocol ID
2022
Other IDs
R01HL046380-15
Status last verified
Oct 2016
First submitted
25 May 2000
Last updated
28 Oct 2016
Results posted
No

Publications

  • Williamson J, Tosteson T, Redline S, Liu X, Dawson D. Familial aggregation studies with matched proband sampling. Hum Hered. 1996 Mar-Apr;46(2):76-84. doi: 10.1159/000154330.

    PubMed 8666416

  • Redline S, Tishler PV, Hans MG, Tosteson TD, Strohl KP, Spry K. Racial differences in sleep-disordered breathing in African-Americans and Caucasians. Am J Respir Crit Care Med. 1997 Jan;155(1):186-92. doi: 10.1164/ajrccm.155.1.9001310.

    PubMed 9001310

  • Redline S, Leitner J, Arnold J, Tishler PV, Altose MD. Ventilatory-control abnormalities in familial sleep apnea. Am J Respir Crit Care Med. 1997 Jul;156(1):155-60. doi: 10.1164/ajrccm.156.1.9610016.

    PubMed 9230740

  • Tishler PV, Redline S, Ferrette V, Hans MG, Altose MD. The association of sudden unexpected infant death with obstructive sleep apnea. Am J Respir Crit Care Med. 1996 Jun;153(6 Pt 1):1857-63. doi: 10.1164/ajrccm.153.6.8665046.

    PubMed 8665046

  • Hans MG, Nelson S, Luks VG, Lorkovich P, Baek SJ. Comparison of two dental devices for treatment of obstructive sleep apnea syndrome (OSAS). Am J Orthod Dentofacial Orthop. 1997 May;111(5):562-70. doi: 10.1016/s0889-5406(97)70293-2.

    PubMed 9155816

  • Nelson S, Hans M. Contribution of craniofacial risk factors in increasing apneic activity among obese and nonobese habitual snorers. Chest. 1997 Jan;111(1):154-62. doi: 10.1378/chest.111.1.154.

    PubMed 8996010

  • Altose M, Redline S, Johnson X, Wright JT Jr. The validity of polysomnographic data obtained during 24-hour ambulatory blood pressure monitoring. Sleep. 1995 May;18(4):272-5. doi: 10.1093/sleep/18.4.272. No abstract available.

    PubMed 7618026

  • Redline S, Tishler PV, Tosteson TD, Williamson J, Kump K, Browner I, Ferrette V, Krejci P. The familial aggregation of obstructive sleep apnea. Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 1):682-7. doi: 10.1164/ajrccm/151.3_Pt_1.682.

    PubMed 7881656

  • Kump K, Whalen C, Tishler PV, Browner I, Ferrette V, Strohl KP, Rosenberg C, Redline S. Assessment of the validity and utility of a sleep-symptom questionnaire. Am J Respir Crit Care Med. 1994 Sep;150(3):735-41. doi: 10.1164/ajrccm.150.3.8087345.

    PubMed 8087345

  • Kiselak J, Clark M, Pera V, Rosenberg C, Redline S. The association between hypertension and sleep apnea in obese patients. Chest. 1993 Sep;104(3):775-80. doi: 10.1378/chest.104.3.775.

    PubMed 8365288

  • Redline S, Strohl KP. Recognition and consequences of obstructive sleep apnea hypopnea syndrome. Clin Chest Med. 1998 Mar;19(1):1-19. doi: 10.1016/s0272-5231(05)70428-7.

    PubMed 9554214

  • Cakirer B, Hans MG, Graham G, Aylor J, Tishler PV, Redline S. The relationship between craniofacial morphology and obstructive sleep apnea in whites and in African-Americans. Am J Respir Crit Care Med. 2001 Mar;163(4):947-50. doi: 10.1164/ajrccm.163.4.2005136.

    PubMed 11282771

  • Redline S, Tishler PV, Schluchter M, Aylor J, Clark K, Graham G. Risk factors for sleep-disordered breathing in children. Associations with obesity, race, and respiratory problems. Am J Respir Crit Care Med. 1999 May;159(5 Pt 1):1527-32. doi: 10.1164/ajrccm.159.5.9809079.

    PubMed 10228121

  • Morton S, Rosen C, Larkin E, Tishler P, Aylor J, Redline S. Predictors of sleep-disordered breathing in children with a history of tonsillectomy and/or adenoidectomy. Sleep. 2001 Nov 1;24(7):823-9. doi: 10.1093/sleep/24.7.823.

    PubMed 11683485

  • Wright JT Jr, Redline S, Taylor AL, Aylor J, Clark K, O'Malia B, Graham G, Liao GS, Morton S. Relationship between 24-H blood pressure and sleep disordered breathing in a normotensive community sample. Am J Hypertens. 2001 Aug;14(8 Pt 1):743-8. doi: 10.1016/s0895-7061(01)01299-7.

    PubMed 11497188

Questions about this trial

What is this clinical trial studying?

An observational study of Lung Diseases and Sleep Apnea Syndromes, run by Brigham and Women's Hospital.

The full registered description is in the About this study section and the official record.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 28 Oct 2016. Status can change between updates, so confirm with the study contact before making plans.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Sleep Apnea. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT00005299, which also lists 25 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Oct 2016.

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