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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| XLHED | Those with the condition of XLHED |
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| 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 |
| 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 |
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Inclusion Criteria:
Subjects must meet all of the following criteria to be enrolled in this study:
Exclusion Criteria:
Subjects who meet any of the following criteria cannot be enrolled in this study:
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Those with the condition of XLHED up to age 36 months
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| Name | Affiliation | Role |
|---|---|---|
| Ramsey Johnson, MSM | Edimer Pharmaceuticals | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, San Francisco | San Francisco | California | 94143 | United States | ||
| Children's National Medical Center |
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| ID | Term |
|---|---|
| D053358 | Ectodermal Dysplasia 1, Anhidrotic |
| ID | Term |
|---|---|
| D004476 | Ectodermal Dysplasia |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| 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 |
| Washington D.C. |
| District of Columbia |
| 20010 |
| United States |
| Washington University School of Medicine | St Louis | Missouri | 63110 | United States |
| Hôpital Necker-Enfants Malades | Paris | 75015 | France |
| University Hospital Erlangen | Erlangen | Bavaria | 91054 | Germany |
| Azienda Ospedaliera-Polo Universitario "Luigi Sacco" | Milan | 20157 | Italy |
| University Hospital of Wales | Cardiff | CF14 4XW | United Kingdom |
| D012868 | Skin Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D012873 | Skin Diseases, Genetic |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |