Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

Study Overview
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Brief Summary
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The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs.

Detailed Description
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Important to the development and regulatory approval of therapies for XLHED will be the collection of data on the clinical history and prospective health of those affected by XLHED. The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs. Genotype-phenotype correlations in XLHED, based on well-documented health records and prospective assessments on genetically-confirmed individuals, may now provide new and clinically-predictive information for the benefit of patients, families, health care providers and clinical investigators designing trials for therapeutic interventions.

Official Title
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Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

Conditions
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X-Linked Hypohidrotic Ectodermal Dysplasia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subjects must meet all of the following criteria to be enrolled in this study: Confirmed genetic diagnosis of XLHED Written informed consent of both parents (if reasonably available) Exclusion Criteria: Subjects who meet any of the following criteria cannot be enrolled in this study: Medically-significant complications or congenital anomalies outside of those considered to be associated with the diagnosis or status of XLHED Having received an investigational study drug prior to enrollment. For subjects less than 6 months of age, the mother cannot have taken an investigational drug during her pregnancy. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists Presence of pacemakers

Ages Eligible for Study
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Maximum Age: 36 Months

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| XLHED<br>Those with the condition of XLHED | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To assess clinical course of untreated XLHED individuals | To characterize the clinical course of untreated XLHED male and female subjects in early childhood, capturing data from physician and hospital records, medical history including growth and development, and family interviews. | Up to 5 years of life | 
| To assess the phenotype of untreated XLHED individuals | To characterize the phenotype of untreated XLHED male subjects and female in early childhood with endpoint assessments including sweat (males only), dentition, craniofacial development, pulmonary and ocular health. | Up to 5 years of life | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To assess changes in endpoint assessments over time (growth and development) |  | Baseline and yearly up through 5 years of age | 
| To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance) |  | Baseline and yearly up through 5 years of age | 
| To assess changes in endpoint assessments over time (sweat rate) |  | Baseline and yearly through 5 years of age | 
| To assess changes in endpoint assessments over time (Dentition) |  | Baseline and yearly through 5 years of age | 
| To assess changes in endpoint assessments over time (dry eye) |  | Baseline and yearly through 5 years of age | 
| To assess changes in endpoint assessments over time (skin, hair and nail health) |  | Baseline through 5 years of age | 
| To assess changes in endpoint assessments over time (respiratory health) |  | Baseline and yearly through 5 years of age | 
| To assess changes in endpoint assessments over time (craniofacial development) |  | Baseline and yearly through 5 years of age | 
| To assess genotype-phenotype correlation in XLHED affected individuals | To correlate clinical course and endpoint outcomes with EDA genotype in untreated XLHED-affected male and female subjects. | Baseline through 5 years of age | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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X-Linked hypohidrotic ectodermal dysplasia, XLHED, Hypohidrotic ectodermal dysplasia, HED, Christ-Siemens-Touraine syndrome