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X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey (X-CORS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01398813
Recruitment Status : Completed
First Posted : July 21, 2011
Last Update Posted : July 9, 2013
Information provided by (Responsible Party):
Edimer Pharmaceuticals

Brief Summary:
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.

Condition or disease
Hypohidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia

Detailed Description:

The full survey is available here:

For more questions or more details you may contact the Principal Investigator, Carrie Milliard: or 207-662-6712

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Study Type : Observational
Estimated Enrollment : 500 participants
Time Perspective: Cross-Sectional
Official Title: Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing
Study Start Date : July 2011
Actual Primary Completion Date : July 2013
Actual Study Completion Date : July 2013

Primary Outcome Measures :
  1. To study the outlook of XLHED carrier females toward reproduction, potential XLHED treatments and genetic testing. [ Time Frame: study day 1 ]
    Survey results will be collected during the 1 day of subject involvement.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study will enroll XLHED carrier females

Inclusion Criteria:

  1. Provide signed informed consent;
  2. 18 years of age or older
  3. Females with:

    • the clinical characteristics of HED, including at least two of the following characteristics:

      • clinical signs and symptoms of HED:

        • a history of decreased sweating;
        • abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns);
        • sparseness of scalp and body hair;
    • AND

      • a clinical diagnosis from a healthcare professional;
      • or at least one HED affected family member
    • OR genetically confirmed HED or XLHED;

Information from the National Library of Medicine

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 identifier (NCT number): NCT01398813

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United States, Maine
Carrie Milliard
Portland, Maine, United States, 04103
Sponsors and Collaborators
Edimer Pharmaceuticals
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Principal Investigator: Carrie Milliard, CGC Maine Medical Partners Pediatric Specialty Care
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Responsible Party: Edimer Pharmaceuticals Identifier: NCT01398813    
Other Study ID Numbers: ECP-008
First Posted: July 21, 2011    Key Record Dates
Last Update Posted: July 9, 2013
Last Verified: July 2013
Keywords provided by Edimer Pharmaceuticals:
Additional relevant MeSH terms:
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Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked