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

NCT ID: NCT05378932

Last Updated: 2025-09-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

22 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-06-10

Study Completion Date

2024-01-16

Brief Summary

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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

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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

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Hypohidrotic Ectodermal Dysplasia

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Hypohidrotic ectodermal dysplasia

Patients aged 3 to 40 years old with hypohidrotic ectodermal dysplasia.

Group Type EXPERIMENTAL

Actigraphy

Intervention Type OTHER

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

Intervention Type OTHER

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

Intervention Type OTHER

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

Intervention Type OTHER

One-off measurement of sweating by a sweat test at the hospital.

Urine melatonin assay

Intervention Type OTHER

Two urine melatonin at home during 24 hours, one during a week day and one during the weekend

Polysomnography

Intervention Type OTHER

Sleep architecture assessed by a polysomnography during one night at home.

Standardized psychological and neuropsychological assessment

Intervention Type OTHER

One-off psychological and neuropsychological assessment of patients with HED during a hospital visit

Healthy controls

Healthy controls aged 3 to 40 years old without hypohidrotic ectodermal dysplasia.

Group Type ACTIVE_COMPARATOR

Actigraphy

Intervention Type OTHER

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

Intervention Type OTHER

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

Intervention Type OTHER

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

Intervention Type OTHER

One-off measurement of sweating by a sweat test at the hospital.

Urine melatonin assay

Intervention Type OTHER

Two urine melatonin at home during 24 hours, one during a week day and one during the weekend

Polysomnography

Intervention Type OTHER

Sleep architecture assessed by a polysomnography during one night at home.

Interventions

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Actigraphy

Sleep efficiency recording at home by means of actigraphy during 10 consecutive days.

Intervention Type 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.

Intervention Type 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.

Intervention Type OTHER

Sweat test

One-off measurement of sweating by a sweat test at the hospital.

Intervention Type OTHER

Urine melatonin assay

Two urine melatonin at home during 24 hours, one during a week day and one during the weekend

Intervention Type OTHER

Polysomnography

Sleep architecture assessed by a polysomnography during one night at home.

Intervention Type OTHER

Standardized psychological and neuropsychological assessment

One-off psychological and neuropsychological assessment of patients with HED during a hospital visit

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

3 Years

Maximum Eligible Age

40 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Lucie Griffon, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Brigitte Fauroux, MD, PhD

Role: STUDY_DIRECTOR

Assistance Publique - Hôpitaux de Paris

Smail Hadj-Rabia, MD, PhD

Role: STUDY_DIRECTOR

Assistance Publique - Hôpitaux de Paris

Locations

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Hôpital Necker-Enfants Malades

Paris, , France

Site Status

Countries

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France

Other Identifiers

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2021-A02736-35

Identifier Type: OTHER

Identifier Source: secondary_id

APHP220045

Identifier Type: -

Identifier Source: org_study_id

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