Autonomic Regulation in Prader-Willi Syndrome

Impact of Sleep-disordered Breathing on Autonomic Regulation in Patients With Prader-Willi Syndrome

To evaluate autonomic regulation in patients with Prader-Willi syndrome with sleep-disordered breathing.

Study Overview

• Status: Unknown
• Conditions: Autonomic Dysfunction
• Intervention / Treatment: Diagnostic test: Polysomnography; Diagnostic test: Multiple sleep latency test; Other: Continuous positive airway pressure

Detailed Description

To evaluate the relationship between narcolepsy and sleep-disordered breathing, the natural course of untreated or treated sleep-disordered breathing and its impacts on autonomic regulation in patients with Prader-Willi syndrome with sleep-disordered breathing.

• Study Type: Observational
• Enrollment (Anticipated): 120

Contacts and Locations

Study Locations

• Taiwan
  • New Taipei, Taiwan, 23143
    • Recruiting
    • Taipei Tzu-Chi Hospital, Buddhist Tzu-Chi Medical Foundation

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 71 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

7-75 y/o Prader-Willi syndrome patients or healthy subjects, can perform polysomnography, multiple sleep latency test, orthostatic methods for autonomic function test, can perform pulmonary function test.

Description

Inclusion Criteria:

• 7-75 y/o Prader-Willi syndrome patients or healthy subjects
• can perform polysomnography, multiple sleep latency test
• orthostatic methods for autonomic function test
• can perform pulmonary function test.

Exclusion Criteria:

• less than y/o, or larger then 75 y/o
• cannot perform polysomnography, multiple sleep latency test
• cannot orthostatic methods for autonomic function test
• cannot perform pulmonary function test
• use of sedatives or drugs affecting autonomic function

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Control; Healthy subjects, 7-75 y/o	Diagnostic test: Polysomnography; overnight polysomnography recording at least six hours; Other Names: PSG; Diagnostic test: Multiple sleep latency test; daytime naps at least four to five naps to evaluate daytime sleepiness and narcolepsy; Other Names: MSLT
Study; 7-75 y/o, diagnosed with Prader-Willi syndrome.	Diagnostic test: Polysomnography; overnight polysomnography recording at least six hours; Other Names: PSG; Diagnostic test: Multiple sleep latency test; daytime naps at least four to five naps to evaluate daytime sleepiness and narcolepsy; Other Names: MSLT; Other: Continuous positive airway pressure; continuous positive airway pressure treatment for sleep-disordered breathing; Other Names: CPAP

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Narcolepsy prevalence	Compare the narcolepsy prevalence amount healthy and Prader-Willi syndrome with or without sleep-disordered breathing	1day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The natural course and its impact of untreated sleep-disordered breathing on autonomic regulation in patients with Prader-Willi syndrome.	Autonomic function measurements (low frequency power and high frequency power, presented as normalized units, and the overall autonomic regulation presented as Low frequency/high frequency ratio) using the EKG signal extracting from overnight polysomnography recording raw data among Prader-Willi patients with untreated sleep-disordered breathing at baseline and after a period of follow-up.	12 months

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
The effect of continuous positive airway pressure on autonomic regulation in patients with Prader-Willi syndrome with sleep-disordered breathing.	Acute effect (one-night continuous positive airway pressure trial):Compared the autonomic function measurements between baseline polysomnography and one night continuous positive airway pressure treatment in patients with Prader-Willi Syndrome and sleep-disordered breathing.; Chronic effect (at least 12 months treatment of continuous positive airway pressure) Compared the autonomic function measurements between baseline polysomnography and after at least 3 months continuous positive airway pressure treatment in patients with Prader-Willi Syndrome and sleep-disordered breathing.	3 months

Collaborators and Investigators

• Sponsor: Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
• Investigators: Principal Investigator: 美貞 楊, MD, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation

Publications and helpful links

General Publications

• Ghergan A, Coupaye M, Leu-Semenescu S, Attali V, Oppert JM, Arnulf I, Poitou C, Redolfi S. Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome. Sleep. 2017 Dec 1;40(12). doi: 10.1093/sleep/zsx162.
• Sedky K, Bennett DS, Pumariega A. Prader Willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population. J Clin Sleep Med. 2014 Apr 15;10(4):403-9. doi: 10.5664/jcsm.3616.
• Miller J, Wagner M. Prader-Willi syndrome and sleep-disordered breathing. Pediatr Ann. 2013 Oct;42(10):200-4. doi: 10.3928/00904481-20130924-10.
• Clift S, Dahlitz M, Parkes JD. Sleep apnoea in the Prader-Willi syndrome. J Sleep Res. 1994 Jun;3(2):121-126. doi: 10.1111/j.1365-2869.1994.tb00115.x.
• Scammell TE. Narcolepsy. N Engl J Med. 2015 Dec 31;373(27):2654-62. doi: 10.1056/NEJMra1500587. No abstract available.

Study record dates

Study Major Dates

• Study Start (Actual): June 25, 2019
• Primary Completion (Anticipated): July 31, 2022
• Study Completion (Anticipated): July 31, 2022

Study Registration Dates

• First Submitted: October 2, 2019
• First Submitted That Met QC Criteria: October 6, 2019
• First Posted (Actual): October 8, 2019

Study Record Updates

• Last Update Posted (Actual): October 15, 2019
• Last Update Submitted That Met QC Criteria: October 13, 2019
• Last Verified: October 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Overnutrition; Nutrition Disorders; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Obesity; Prader-Willi Syndrome; Primary Dysautonomias; Autonomic Nervous System Diseases
• Other Study ID Numbers: 08-XD-008

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No