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

Hypohidrotic Ectodermal Dysplasia Clinical Trial

— DEH-Somno  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05378932
• Other study ID #: APHP220045
• Secondary ID: 2021-A02736-35
• Status: Completed
• Phase: N/A
• Start date: June 10, 2022
• Est. completion date: January 16, 2024

Study information

• Verified date: May 2024
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 22
• Est. completion date: January 16, 2024
• Est. primary completion date: January 16, 2024
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 3 Years to 40 Years

Eligibility

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

Related Conditions & MeSH terms

• Ectodermal Dysplasia
• Hyperplasia
• Hypohidrotic Ectodermal Dysplasia

Intervention

Other:
• Actigraphy
Sleep efficiency recording at home by means of actigraphy during 10 consecutive days.
• 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.
• 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.
• Sweat test
One-off measurement of sweating by a sweat test at the hospital.
• Urine melatonin assay
Two urine melatonin at home during 24 hours, one during a week day and one during the weekend
• Polysomnography
Sleep architecture assessed by a polysomnography during one night at home.
• Standardized psychological and neuropsychological assessment
One-off psychological and neuropsychological assessment of patients with HED during a hospital visit

Locations

Country	Name	City	State
France	Hôpital Necker-Enfants Malades	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Sleep efficiency on actigraphy	Comparison of sleep efficiency evaluated on actigraphy between HED patients and healthy controls.	10 days
Primary	Total sleep time on actigraphy	Comparison of total sleep time evaluated on actigraphy between HED patients and healthy controls.	10 days
Primary	Awake after sleep onset on actigraphy	Comparison of wake after sleep onset evaluated on actigraphy between HED patients and healthy controls.	10 days
Primary	Sleep fragmentation index	Comparison of sleep fragmentation index evaluated on actigraphy between HED patients and healthy controls.	10 days
Secondary	Melatonin secretion cycle	Comparison of the melatonin secretion cycle between DEH patients and healthy controls using the urinary quantitative assay of 6-sulfatoxymelatonin by ELISA method.	48 hours
Secondary	Total sleep time on polysomnography	Comparison of total sleep time evaluated on polysomnography between HED patients and healthy controls.	One night
Secondary	Sleep onset latency	Comparison of sleep onset latency evaluated on polysomnography between HED patients and healthy controls.	One night
Secondary	Sleep efficiency on polysomnography	Comparison of sleep efficiency evaluated on polysomnography between HED patients and healthy controls.	One night
Secondary	Awake after sleep onset on polysomnography	Comparison of wake after sleep onset evaluated on polysomnography between HED patients and healthy controls.	One night
Secondary	Micro-arousal index	Comparison of micro-arousal index evaluated on polysomnography between HED patients and healthy controls.	One night
Secondary	Percentage of sleep stages	Comparison of the percentage of sleep stages evaluated on polysomnography between HED patients and healthy controls.	One night
Secondary	Pittsburgh Sleep Quality Index	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)	Day 0
Secondary	Epworth Sleepiness Scale	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)	Day 0
Secondary	WPPSI-IV intellectual ability test	Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WPPSI-IV. Mean normal score is 100 ± 15. Abnormal for a score <70.	Day 0
Secondary	WISC-V intellectual ability tests	Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WISC-V. Mean normal score is 100 ± 15. Abnormal for a score <70.	Day 0
Secondary	WAIS-IV intellectual ability tests	Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WAIS-IV. Mean normal score is 100 ± 15. Abnormal for a score <70.	Day 0
Secondary	TAP attention test	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.	Day 0
Secondary	NEPSY-II attention test	Attention test in patients with hypohidrotic ectodermal dysplasia using the NEPSY-II test. Mean normal value =10 (SD3). Abnormal for a score <4).	Day 0
Secondary	Conners 3 attention questionnaire	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.	Day 0
Secondary	NEPSY-II for executive function test	Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the NEPSY-II Mean normal score is 10 ± 3, abnormal when score <4.	Day 0
Secondary	Trail Making for executive function test	Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the Trail Making test. Mean normal score is 10 ± 3, abnormal when score <4.	Day 0
Secondary	TAP subtests for executive function	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.	Day 0
Secondary	BRIEF and BRIEF-P questionnaire for executive function	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.	Day 0
Secondary	Correlation between skin temperature and sleep efficiency and architecture	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.	10 days
Secondary	Correlation between skin temperature and sleep questionnaires scores	Correlation between skin temperature and sleep quality questionnaires scores in patients with hypohidrotic ectodermal dysplasia and healthy controls.	10 days
Secondary	Correlation between skin temperature and melatonin secretion	Correlation between skin temperature and melatonin secretion cycle in patients with hypohidrotic ectodermal dysplasia and in control subjects.	10 days
Secondary	Correlation between sleep efficiency and neuropsychological test scores	Correlation between sleep efficiency evaluated on actigraphy and neuropsychological test scores in patients with hypohidrotic ectodermal dysplasia.	10 days