Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
In this survey of X-Lined Hypohidrotic Ectodermal Dysplasia (XLHED) carrier females, Edimer proposes to review responses to an XLHED Carrier Outlook toward Reproduction Survey in order to understand attitudes toward reproduction, potential treatments and genetic testing in order to improve the understanding of the decisions that XLHED carrier females make regarding their reproductive future.
The full survey is available here: https://www.surveymonkey.com/s/X-CORS
For more questions or more details you may contact the Principal Investigator, Carrie Milliard: MILLIC@mmc.org or 207-662-6712
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| To study the outlook of XLHED carrier females toward reproduction, potential XLHED treatments and genetic testing. | Survey results will be collected during the 1 day of subject involvement. | study day 1 |
Not provided
Not provided
Inclusion Criteria:
Provide signed informed consent;
18 years of age or older
Females with:
the clinical characteristics of HED, including at least two of the following characteristics:
clinical signs and symptoms of HED:
AND
OR genetically confirmed HED or XLHED;
Not provided
Not provided
Not provided
The study will enroll XLHED carrier females
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Carrie Milliard, CGC | Maine Medical Partners Pediatric Specialty Care | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Carrie Milliard | Portland | Maine | 04103 | United States |
Not provided
| 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 |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| 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 |