Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC)

The proposed research project is aimed at further characterization of sleep problems and evaluation of their impact in children and adults with TSC, excluding epilepsy as contributing factor. Questionnaire-based studies have shown that sleep problems occur in up to half of the children and a third of adults with tuberous sclerosis complex (TSC). However, there is only limited information on the nature of sleep problems and their impact on patients with TSC and their families.

Study Overview

• Status: Unknown
• Conditions: Sleep Disorder
• Intervention / Treatment: Other: Questionnaires; Procedure: electroencephalogram (EEG); Procedure: polysomnography; Procedure: Actigraphy

Detailed Description

Questionnaire-based studies have shown that sleep problems occur in up to half of the children and a third of adults with tuberous sclerosis complex (TSC). However, there is only limited information on the nature of sleep problems and their impact on patients with TSC and their families. It is known from a questionnaire-based study in children with TSC that they often wake early or wake frequently during the night, and that they can be more tired during the day. In some children, sleep-problems seem to be related to the presence of seizures during the night. This has been confirmed in a study on 10 children with TSC and epilepsy by a combination of polysomnography (sleep study) and electroencephalography (EEG). A questionnaire-based study in adults also revealed the association with epilepsy features, and showed influence of mental health complaints on sleep.

Sleep structure and quality will be assessed through formal sleep studies (polysomnography and actigraphy). The influence of abnormal brain activity on sleep will be mapped by simultaneous recording of brain activity by means of EEG. The impact of sleep disorders will be determined through interviews with individuals with TSC and their relatives. The investigators will also use questionnaires and diaries to supplement their findings.

Importance: It is expected that the results of this study will 1) improve our understanding of sleep problems in TSC, 2) provide additional information on the influence of TSC on sleep, 3) give a more in-depth view on the impact of sleep problems on the lives of individuals with TSC and their families, 4) increase awareness about sleep problems in TSC, and 5) contribute to a better management of sleep problems by patients and families.

• Study Type: Interventional
• Enrollment (Anticipated): 60
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Veerle Van Mossevelde, Study coordinator; Phone Number: +3224763134; Email: veerle.vanmossevelde@uzbrussel.be
• Study Contact Backup: Name: Dirk De Clippeleir, Study coordinator; Phone Number: +3224763580; Email: dirk.declippeleir@uzbrussel.be

Study Locations

• Belgium
  • Vlaams Brabant
    • Jette, Vlaams Brabant, Belgium, 1090
      • Recruiting
      • Universitair Ziekenhuis Brussel

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 70 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

Children and adults with definite TSC based on the 2012 Consensus Conference Diagnostic

Exclusion Criteria:

• daily alcohol intake
• pregnancy
• caffeine abuse (>4 cups/day)
• shift work
• drug abuse
• anti-depressive therapy
• medications as benzodiazepine, melatonin, phenobarbital and antihistamines
• the presence of clinical or electrographic seizures.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Children; Questionnaires electroencephalogram (EEG) Actigraphy polysomnography	Other: Questionnaires; Epworth sleepiness scale; Pittsburgh sleep quality Index (PSQI); EQ-5D Adults; Pediatric Daytime Sleepiness scale (PDSS); Sleep disturbance Scale for Children (SDSC; EQ-5D Children; Sleaping diary; Procedure: electroencephalogram (EEG); is an electrophysiological monitoring method to record electrical activity of the brain; Procedure: polysomnography; type of sleep study, is a multi-parametric test used in the study of sleep and as a diagnostic tool in sleep medicine; Procedure: Actigraphy; type of sleep study based on bracelet around the wrist
Other: Adults; Questionnaires electroencephalogram (EEG) Actigraphy polysomnography	Other: Questionnaires; Epworth sleepiness scale; Pittsburgh sleep quality Index (PSQI); EQ-5D Adults; Pediatric Daytime Sleepiness scale (PDSS); Sleep disturbance Scale for Children (SDSC; EQ-5D Children; Sleaping diary; Procedure: electroencephalogram (EEG); is an electrophysiological monitoring method to record electrical activity of the brain; Procedure: polysomnography; type of sleep study, is a multi-parametric test used in the study of sleep and as a diagnostic tool in sleep medicine; Procedure: Actigraphy; type of sleep study based on bracelet around the wrist

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
characterize the sleep phenotype of TSC in children and adults without epilepsy	- Sleep efficiency (SE%): the percentage ratio between total sleep time and time in bed (TST/TIB*100)	1 night

Collaborators and Investigators

• Sponsor: Universitair Ziekenhuis Brussel
• Investigators: Principal Investigator: Anna Jansen, PhD, MD, Universitair Ziekenhuis Brussel; Principal Investigator: Sonia De Weerdt, MD, Universitair Ziekenhuis Brussel; Principal Investigator: Alessandra Pereira,, PhD, MD, Department of Pediatrics School of Medicine, PUCRS, Brazil; Principal Investigator: Magda Nunes, PhD, MD, Director, School of Medicine, PUCRS, Brazil; Brain Instititute of Rio Grande do Sul, Brazil; Principal Investigator: Oliviero Bruni, PhD, MD, Department of Developmental and Social Psychology, Sapienza University of Rome, Italy; Principal Investigator: Paolo Curatolo, PhD, MD, Director, Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, Italy

Study record dates

Study Major Dates

• Study Start (Actual): September 27, 2017
• Primary Completion (Anticipated): November 1, 2019
• Study Completion (Anticipated): November 30, 2019

Study Registration Dates

• First Submitted: October 6, 2017
• First Submitted That Met QC Criteria: October 25, 2017
• First Posted (Actual): October 31, 2017

Study Record Updates

• Last Update Posted (Actual): October 17, 2018
• Last Update Submitted That Met QC Criteria: October 15, 2018
• Last Verified: October 1, 2018

More Information

Terms related to this study

• Keywords: Children; Adults; tuberous sclerosis complex (TSC)
• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Nervous System Diseases; Neoplasms; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Neurocutaneous Syndromes; Hamartoma; Neoplasms, Multiple Primary; Sclerosis; Sleep Wake Disorders; Parasomnias; Tuberous Sclerosis
• Other Study ID Numbers: TSC v 1.0

Drug and device information, study documents

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