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

Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing

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.

Study Overview

• Status: Completed
• Conditions: Hypohidrotic Ectodermal Dysplasia; X-Linked Hypohidrotic Ectodermal Dysplasia

Detailed Description

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

• Study Type: Observational
• Enrollment (Anticipated): 500

Contacts and Locations

Study Locations

• United States
  • Maine
    • Portland, Maine, United States, 04103
      • Carrie Milliard

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

The study will enroll XLHED carrier females

Description

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;

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Edimer Pharmaceuticals
• Investigators: Principal Investigator: Carrie Milliard, CGC, Maine Medical Partners Pediatric Specialty Care

Study record dates

Study Major Dates

• Study Start: July 1, 2011
• Primary Completion (ACTUAL): July 1, 2013
• Study Completion (ACTUAL): July 1, 2013

Study Registration Dates

• First Submitted: July 19, 2011
• First Submitted That Met QC Criteria: July 20, 2011
• First Posted (ESTIMATE): July 21, 2011

Study Record Updates

• Last Update Posted (ESTIMATE): July 9, 2013
• Last Update Submitted That Met QC Criteria: July 7, 2013
• Last Verified: July 1, 2013

More Information

Terms related to this study

• Keywords: HED; XLHED
• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Skin Diseases, Genetic; Skin Abnormalities; Abnormalities, Multiple; Hyperplasia; Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic
• Other Study ID Numbers: ECP-008