NCT05378932

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
22

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jun 2022

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 28, 2022

Completed
2 months until next milestone

First Posted

Study publicly available on registry

May 18, 2022

Completed
23 days until next milestone

Study Start

First participant enrolled

June 10, 2022

Completed
1.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 16, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 16, 2024

Completed
Last Updated

September 12, 2025

Status Verified

September 1, 2025

Enrollment Period

1.6 years

First QC Date

March 28, 2022

Last Update Submit

September 5, 2025

Conditions

Hypohidrotic Ectodermal Dysplasia

Keywords

Hypohidrotic ectodermal dysplasiaSleep efficiencyCircadian biological clockMelatoninActigraphyPolysomnography (PSG)

Outcome Measures

Primary Outcomes (4)

  • Sleep efficiency on actigraphy

    Comparison of sleep efficiency evaluated on actigraphy between HED patients and healthy controls.

    10 days

  • Total sleep time on actigraphy

    Comparison of total sleep time evaluated on actigraphy between HED patients and healthy controls.

    10 days

  • Awake after sleep onset on actigraphy

    Comparison of wake after sleep onset evaluated on actigraphy between HED patients and healthy controls.

    10 days

  • Sleep fragmentation index

    Comparison of sleep fragmentation index evaluated on actigraphy between HED patients and healthy controls.

    10 days

Secondary Outcomes (23)

  • Melatonin secretion cycle

    48 hours

  • Total sleep time on polysomnography

    One night

  • Sleep onset latency

    One night

  • Sleep efficiency on polysomnography

    One night

  • Awake after sleep onset on polysomnography

    One night

  • +18 more secondary outcomes

Study Arms (2)

Hypohidrotic ectodermal dysplasia

EXPERIMENTAL

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

Other: ActigraphyOther: Recording of proximal and distal skin temperature and temperature of the bedroomOther: Questionnaires assessing subjective sleep qualityOther: Sweat testOther: Urine melatonin assayOther: PolysomnographyOther: Standardized psychological and neuropsychological assessment

Healthy controls

ACTIVE COMPARATOR

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

Other: ActigraphyOther: Recording of proximal and distal skin temperature and temperature of the bedroomOther: Questionnaires assessing subjective sleep qualityOther: Sweat testOther: Urine melatonin assayOther: Polysomnography

Interventions

ActigraphyOTHER

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

Healthy controlsHypohidrotic ectodermal dysplasia
Recording of proximal and distal skin temperature and temperature of the bedroomOTHER

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.

Healthy controlsHypohidrotic ectodermal dysplasia
Questionnaires assessing subjective sleep qualityOTHER

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.

Healthy controlsHypohidrotic ectodermal dysplasia
Sweat testOTHER

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

Healthy controlsHypohidrotic ectodermal dysplasia
Urine melatonin assayOTHER

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

Healthy controlsHypohidrotic ectodermal dysplasia
PolysomnographyOTHER

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

Healthy controlsHypohidrotic ectodermal dysplasia
Standardized psychological and neuropsychological assessmentOTHER

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

Hypohidrotic ectodermal dysplasia

Eligibility Criteria

Age3 Years - 40 Years
Sexmale(Gender-based eligibility)
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

MeSH Terms

Conditions

Ectodermal Dysplasia 1, Anhidrotic

Interventions

ActigraphyNeuropsychological Tests

Condition Hierarchy (Ancestors)

Ectodermal DysplasiaAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesGenetic Diseases, X-LinkedGenetic Diseases, InbornSkin Diseases, GeneticSkin DiseasesSkin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Monitoring, PhysiologicDiagnostic Techniques and ProceduresDiagnosisAccelerometryInvestigative TechniquesPsychological TestsBehavioral Disciplines and Activities

Study Officials

  • Lucie Griffon, MD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

  • Brigitte Fauroux, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    STUDY DIRECTOR

  • Smail Hadj-Rabia, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    STUDY DIRECTOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 28, 2022

First Posted

May 18, 2022

Study Start

June 10, 2022

Primary Completion

January 16, 2024

Study Completion

January 16, 2024

Last Updated

September 12, 2025

Record last verified: 2025-09

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)