Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia

Not Applicable

Completed

• Conditions: Hypohidrotic Ectodermal Dysplasia
• Interventions: Other: Actigraphy; Other: Recording of proximal and distal skin temperature and temperature of the bedroom; Other: Questionnaires assessing subjective sleep quality; Other: Sweat test; Other: Urine melatonin assay; Other: Polysomnography; Other: Standardized psychological and neuropsychological assessment

• Registration Number: NCT05378932
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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.

Study Timeline

• Study First Submitted: 2022-03-28
• Study First Submitted QC: 2022-05-12
• Study First Posted: 2022-05-18
• Study Start: 2022-06-10
• Primary Completion: 2024-01-16
• Study Completion: 2024-01-16
• Status Verified: 2024-05
• Last Update Submitted: 2024-05-23
• Last Update Posted: 2024-05-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 22

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Hypohidrotic ectodermal dysplasia	Sweat test	Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia	Actigraphy	Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia	Recording of proximal and distal skin temperature and temperature of the bedroom	Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.
Healthy controls	Urine melatonin assay	Healthy controls aged 3 to 40 years old without hypohidrotic ectodermal dysplasia.
Healthy controls	Polysomnography	Healthy controls aged 3 to 40 years old without hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia	Questionnaires assessing subjective sleep quality	Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.
Healthy controls	Actigraphy	Healthy controls aged 3 to 40 years old without hypohidrotic ectodermal dysplasia.
Healthy controls	Recording of proximal and distal skin temperature and temperature of the bedroom	Healthy controls aged 3 to 40 years old without hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia	Urine melatonin assay	Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia	Polysomnography	Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.
Healthy controls	Questionnaires assessing subjective sleep quality	Healthy controls aged 3 to 40 years old without hypohidrotic ectodermal dysplasia.
Healthy controls	Sweat test	Healthy controls aged 3 to 40 years old without hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia	Standardized psychological and neuropsychological assessment	Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.

Primary Outcome Measures

Name	Time	Method
Awake after sleep onset on actigraphy	10 days	Comparison of wake after sleep onset evaluated on actigraphy between HED patients and healthy controls.
Sleep fragmentation index	10 days	Comparison of sleep fragmentation index evaluated on actigraphy between HED patients and healthy controls.
Sleep efficiency on actigraphy	10 days	Comparison of sleep efficiency evaluated on actigraphy between HED patients and healthy controls.
Total sleep time on actigraphy	10 days	Comparison of total sleep time evaluated on actigraphy between HED patients and healthy controls.

Secondary Outcome Measures

Name	Time	Method
Total sleep time on polysomnography	One night	Comparison of total sleep time evaluated on polysomnography between HED patients and healthy controls.
Micro-arousal index	One night	Comparison of micro-arousal index evaluated on polysomnography between HED patients and healthy controls.
WISC-V intellectual ability tests	Day 0	Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WISC-V. Mean normal score is 100 ± 15. Abnormal for a score \<70.
WAIS-IV intellectual ability tests	Day 0	Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WAIS-IV. Mean normal score is 100 ± 15. Abnormal for a score \<70.
Sleep onset latency	One night	Comparison of sleep onset latency evaluated on polysomnography between HED patients and healthy controls.
Awake after sleep onset on polysomnography	One night	Comparison of wake after sleep onset evaluated on polysomnography between HED patients and healthy controls.
WPPSI-IV intellectual ability test	Day 0	Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WPPSI-IV. Mean normal score is 100 ± 15. Abnormal for a score \<70.
TAP attention test	Day 0	Attention test in patients with hypohidrotic ectodermal dysplasia using the TAP test. Mean normal value of T-score is 50 ± 1. Abnormal for a T-score \<30.
Conners 3 attention questionnaire	Day 0	Attention questionnaire in patients with hypohidrotic ectodermal dysplasia using Conners 3 questionnaire. Mean normal value of T-score is 50 ± 10), abnormal T-score \> 69.
NEPSY-II for executive function test	Day 0	Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the NEPSY-II Mean normal score is 10 ± 3, abnormal when score \<4.
Sleep efficiency on polysomnography	One night	Comparison of sleep efficiency evaluated on polysomnography between HED patients and healthy controls.
Melatonin secretion cycle	48 hours	Comparison of the melatonin secretion cycle between DEH patients and healthy controls using the urinary quantitative assay of 6-sulfatoxymelatonin by ELISA method.
Percentage of sleep stages	One night	Comparison of the percentage of sleep stages evaluated on polysomnography between HED patients and healthy controls.
NEPSY-II attention test	Day 0	Attention test in patients with hypohidrotic ectodermal dysplasia using the NEPSY-II test. Mean normal value =10 (SD3). Abnormal for a score \<4).
Correlation between skin temperature and melatonin secretion	10 days	Correlation between skin temperature and melatonin secretion cycle in patients with hypohidrotic ectodermal dysplasia and in control subjects.
Correlation between sleep efficiency and neuropsychological test scores	10 days	Correlation between sleep efficiency evaluated on actigraphy and neuropsychological test scores in patients with hypohidrotic ectodermal dysplasia.
Pittsburgh Sleep Quality Index	Day 0	Subjective sleep quality. Pittsburgh Sleep Quality Index (PSQI) to assess sleep quality. Normal value \<5.; The Epworth Sleepiness Scale to assess daytime sleepiness (normal value \<8)
Epworth Sleepiness Scale	Day 0	Subjective sleep quality. The Epworth Sleepiness Scale to assess daytime sleepiness. Normal value \<8.; The Epworth Sleepiness Scale to assess daytime sleepiness (normal value \<8)
Trail Making for executive function test	Day 0	Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the Trail Making test. Mean normal score is 10 ± 3, abnormal when score \<4.
BRIEF and BRIEF-P questionnaire for executive function	Day 0	Executive function questionnaire in patients with hypohidrotic ectodermal dysplasia using BRIEF and BRIEF-P questionnaire. Mean normal value of T-score is 50 ± 10, abnormal T-score is \> 65.
Correlation between skin temperature and sleep efficiency and architecture	10 days	Correlation between skin temperature and sleep efficiency in patients with hypohidrotic ectodermal dysplasia and healthy controls.; Sleep efficiency is evaluated by actigraphy results and architecture by polysomnography results.; Skin temperature is evaluated by a data logger placed on the skin.
TAP subtests for executive function	Day 0	Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the TAP subtests. Mean normal value of T-score TAP subtests is 50 ± 10, abnormal T-score is \<30.
Correlation between skin temperature and sleep questionnaires scores	10 days	Correlation between skin temperature and sleep quality questionnaires scores in patients with hypohidrotic ectodermal dysplasia and healthy controls.

Trial Locations

Locations (1)

Hôpital Necker-Enfants Malades; 🇫🇷 Paris, France