Clinical trial NCT05378932: Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
Official title: Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Hypohidrotic Ectodermal Dysplasia
Keywords: Hypohidrotic ectodermal dysplasia
Sleep efficiency
Circadian biological clock
Melatonin
Actigraphy
Polysomnography (PSG)
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2022-05-18
Enrollment: 22
Sex: MALE
Minimum age (years): 3
Maximum age (years): 40
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

Brief summary: The aim of the study is to compare sleep efficiency by means of actigraphy in patients with hypohidrotic ectodermal dysplasia with healthy controls.

Sleep efficiency, assessed on actigraphy, sleep architecture assessed on on polysomnography, body temperature and urine melatonin levels will be compared between the patients with hypohidrotic ectodermal dysplasia with healthy controls.

Detailed description: Ectodermal dysplasias (ED) are rare genetic diseases characterized by a developmental abnormality of at least two of the following ectodermal derivatives: teeth, nails, pilosity and glands. In the hypohidrotic form (HED), dental abnormalities (oligodontia, hypodontia) and the decrease or even the absence of sweating are predominant. The lack of sweating, and therefore of the regulation of core body temperature, can impact the daily lives of patients as soon as the ambient temperature exceeds 23-24 ° C.

Core body temperature is one of the players of the internal biological clock that regulates sleep. Indeed, sleep is induced by a decrease in core body temperature concomitant with a peak of melatonin secretion. Consequently, the absence of sweating in HED and therefore the inability to lower core body temperature may explain the poor sleep quality reported by patients. However, sleep disturbances have not been analyzed in the literature nor the relationship between sleep quality and core body temperature in patients with HED.

The sleep of patients with HED who are followed at the national reference center for rare diseases of the skin and mucous membranes of genetic origin (MAGEC center) of the Necker-Enfants Malades hospital will be evaluated and compared to sleep of healthy controls screened within in the patient's family.

The main objective of the study is to compare the sleep efficiency evaluated on actigraphy between HED patients and healthy controls.

Sleep efficiency will be measured by means of actigraphy during 10 days and one overnight polysomnography, together with continuous recording of proximal and distal skin temperature during 10 days, one-off measurement of sweating by a sweat test and urine melatonin assay over 24 hours.

Subjective sleep quality will also be assessed by means of questionnaires in patients and healthy controls. Finally, patients with HED will also have a standardized psychological and neuropsychological assessment.

Eligibility criteria: Inclusion Criteria:

* Male patients with molecularly confirmed hypohidrotic ectodermal dysplasia (HED), children over 3 years of age and adults under 40 years of age. Patients will be separated into 3 age groups (3 to 6 years old, 7 to 12 years old, 13 years old and over)
* Healthy controls (control subjects), of same age group, recruited if possible within the patient's direct entourage
* Written informed consent

Exclusion Criteria:

* No social insurance
* Presence of an associated pathology known to alter the quality of sleep (neurological, cardiac, psychiatric, severe sleep apnea syndrome)
* Presence of an associated pathology causing significant psychomotor retardation, behavioral disorders with impossible cooperation or significant agitation
* Treatment with psychotropic drugs or drugs stimulating vigilance
* Patient under guardianship/curatorship

Primary outcomes:
measure: Sleep efficiency on actigraphy
timeFrame: 10 days
measure: Total sleep time on actigraphy
timeFrame: 10 days
measure: Awake after sleep onset on actigraphy
timeFrame: 10 days
measure: Sleep fragmentation index
timeFrame: 10 days
Secondary outcomes:
measure: Melatonin secretion cycle
timeFrame: 48 hours
measure: Total sleep time on polysomnography
timeFrame: One night
measure: Sleep onset latency
timeFrame: One night
measure: Sleep efficiency on polysomnography
timeFrame: One night
measure: Awake after sleep onset on polysomnography
timeFrame: One night
measure: Micro-arousal index
timeFrame: One night
measure: Percentage of sleep stages
timeFrame: One night
measure: Pittsburgh Sleep Quality Index
timeFrame: Day 0
measure: Epworth Sleepiness Scale
timeFrame: Day 0
measure: WPPSI-IV intellectual ability test
timeFrame: Day 0
measure: WISC-V intellectual ability tests
timeFrame: Day 0
measure: WAIS-IV intellectual ability tests
timeFrame: Day 0
measure: TAP attention test
timeFrame: Day 0
measure: NEPSY-II attention test
timeFrame: Day 0
measure: Conners 3 attention questionnaire
timeFrame: Day 0
measure: NEPSY-II for executive function test
timeFrame: Day 0
measure: Trail Making for executive function test
timeFrame: Day 0
measure: TAP subtests for executive function
timeFrame: Day 0
measure: BRIEF and BRIEF-P questionnaire for executive function
timeFrame: Day 0
measure: Correlation between skin temperature and sleep efficiency and architecture
timeFrame: 10 days
measure: Correlation between skin temperature and sleep questionnaires scores
timeFrame: 10 days
measure: Correlation between skin temperature and melatonin secretion
timeFrame: 10 days
measure: Correlation between sleep efficiency and neuropsychological test scores
timeFrame: 10 days
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Lucie Griffon, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Assistance Publique - Hôpitaux de Paris
name: Brigitte Fauroux, MD, PhD
role: STUDY_DIRECTOR
affiliation: Assistance Publique - Hôpitaux de Paris
name: Smail Hadj-Rabia, MD, PhD
role: STUDY_DIRECTOR
References: