Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia (ECP-015)
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ClinicalTrials.gov Identifier: NCT02099552 |
Recruitment Status :
Completed
First Posted : March 31, 2014
Last Update Posted : September 5, 2017
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Condition or disease |
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X-Linked Hypohidrotic Ectodermal Dysplasia |
Study Type : | Observational |
Estimated Enrollment : | 150 participants |
Observational Model: | Cohort |
Time Perspective: | Other |
Official Title: | Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia |
Actual Study Start Date : | April 2014 |
Actual Primary Completion Date : | December 2016 |
Actual Study Completion Date : | December 2016 |

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

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Ages Eligible for Study: | up to 36 Months (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02099552
United States, California | |
University of California, San Francisco | |
San Francisco, California, United States, 94143 | |
United States, District of Columbia | |
Children's National Medical Center | |
Washington, D.C., District of Columbia, United States, 20010 | |
United States, Missouri | |
Washington University School of Medicine | |
Saint Louis, Missouri, United States, 63110 | |
France | |
Hôpital Necker-Enfants Malades | |
Paris, France, 75015 | |
Germany | |
University Hospital Erlangen | |
Erlangen, Bavaria, Germany, 91054 | |
Italy | |
Azienda Ospedaliera-Polo Universitario "Luigi Sacco" | |
Milan, Italy, 20157 | |
United Kingdom | |
University Hospital of Wales | |
Cardiff, United Kingdom, CF14 4XW |
Study Director: | Ramsey Johnson, MSM | Edimer Pharmaceuticals |
Responsible Party: | Edimer Pharmaceuticals |
ClinicalTrials.gov Identifier: | NCT02099552 |
Other Study ID Numbers: |
ECP-015 |
First Posted: | March 31, 2014 Key Record Dates |
Last Update Posted: | September 5, 2017 |
Last Verified: | August 2017 |
X-Linked hypohidrotic ectodermal dysplasia XLHED Hypohidrotic ectodermal dysplasia HED Christ-Siemens-Touraine syndrome |
Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Hyperplasia Pathologic Processes Abnormalities, Multiple Congenital Abnormalities |
Skin Abnormalities Skin Diseases, Genetic Genetic Diseases, Inborn Skin Diseases Genetic Diseases, X-Linked |