Clinical trial NCT03326765: Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC)
Official title: Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC)
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Sleep Disorder
Keywords: tuberous sclerosis complex (TSC)
Children
Adults
Lead sponsor: Universitair Ziekenhuis Brussel
Sponsor class: OTHER
First posted: 2017-10-31
Enrollment: 60
Sex: ALL
Minimum age (years): 1
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Intervention model description: 2 groups:

* 30 Children(0-18y) withTSC without epilepsy
* 30 Adults(\>18y) withTSC without epilepsy
Primary purpose: OTHER

Brief summary: 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: characterize the sleep phenotype of TSC in children and adults without epilepsy
timeFrame: 1 night
Secondary outcomes:
Other outcomes:
Locations:
city: Jette
country: Belgium
facility: Universitair Ziekenhuis Brussel
state: Vlaams Brabant
Study officials:
affiliation: Universitair Ziekenhuis Brussel
name: Anna Jansen, PhD, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Universitair Ziekenhuis Brussel
name: Sonia De Weerdt, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Department of Pediatrics School of Medicine, PUCRS, Brazil
name: Alessandra Pereira,, PhD, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Director, School of Medicine, PUCRS, Brazil; Brain Instititute of Rio Grande do Sul, Brazil
name: Magda Nunes, PhD, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Department of Developmental and Social Psychology, Sapienza University of Rome, Italy
name: Oliviero Bruni, PhD, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Director, Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, Italy
name: Paolo Curatolo, PhD, MD
role: PRINCIPAL_INVESTIGATOR
References: