NCT05378932

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 22 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: Male
• Age: 3 Years – 40 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Hypohidrotic Ectodermal Dysplasia

Interventions

Type	Name	Description
OTHER	Actigraphy	Sleep efficiency recording at home by means of actigraphy during 10 consecutive days.
OTHER	Recording of proximal and distal skin temperature and temperature of the bedroom	Recording of proximal and distal skin temperature at home by data loggers placed on the skin during 10 consecutive days. Recording of temperature of the bedroom by a data logger during 10 consecutive days.
OTHER	Questionnaires assessing subjective sleep quality	One-off questionnaires assessing subjective sleep quality. The Pittsburgh Sleep Quality Index (PSQI) evaluates sleep quality with questions about sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, use of sleep medications, and daytime dysfunction during the last month. The Epworth Sleepiness Scale evaluates daytime sleepiness and comprises 8 items (situations) during which individuals assess how likely they would fall asleep.
OTHER	Sweat test	One-off measurement of sweating by a sweat test at the hospital.
OTHER	Urine melatonin assay	Two urine melatonin at home during 24 hours, one during a week day and one during the weekend
OTHER	Polysomnography	Sleep architecture assessed by a polysomnography during one night at home.
OTHER	Standardized psychological and neuropsychological assessment	One-off psychological and neuropsychological assessment of patients with HED during a hospital visit

Timeline

• Start date: 2022-06-10
• Primary completion: 2024-01-16
• Completion: 2024-01-16
• First posted: 2022-05-18
• Last updated: 2025-09-12

Locations

1 site across 1 country: France