Phenotypic Properties in Individuals Affected With XLHED

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X-linked Hypohidrotic Ectodermal Dysplasia
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Brief Title

Phenotypic Properties in Individuals Affected With XLHED

Official Title

Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition

Brief Summary

      The current study design incorporates two previously developed, non-invasive approaches to
      characterize the phenotype of individuals affected with XLHED.

Detailed Description

      The current study design incorporates two previously developed, non-invasive approaches to
      characterize the phenotype of individuals affected with XLHED. Facial 3-dimensional (3D)
      imaging will be created from white-field morphometric scanning (Hammond, 2004. The 3D facial
      photographs collected from males (ages 4 years and up) will be used to develop a non-invasive
      screening tool, which could enable detection of craniofacial signs of XLHED in the newborn
      period. 3D facial profiling has been reported to be effective in identifying HED (Dellavia et
      al., 2008), but the technology does not yet meet the ease-of-use criteria for a universal
      screening tool.

      Standard 2-dimensional (2D) frontal and lateral facial photographs will be taken of the same
      XLHED-affected male subjects as well as of adult females (ages 18-45 yrs) at risk for being
      XLHED carriers and unaffected adult female controls. The 2D facial photographs will serve a
      dual purpose; the first being to beta-test a previously developed algorithm to identify males
      affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report,
      December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to
      identify female carriers of XLHED.

Study Type

Observational

Primary Outcome

To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls

Condition

X Linked Hypohidrotic Ectodermal Dysplasia

Study Arms / Comparison Groups

 XLHED affected Males
Description:  All males ages 4 and up affected by XLHED

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment

30

Start Date

May 2013

Completion Date

September 2013

Primary Completion Date

July 2013

Eligibility Criteria

        Inclusion Criteria:

          1. Females of original gender of age 18-45 years who are registered and attending the
             2013 NFED Family Conference. This will include those at risk for XLHED and controls

          2. XLHED-affected males of original gender of age 4 yrs and up who are registered and
             attending the 2013 NFED Family Conference

          3. Provide informed consent/assent

        Exclusion Criteria:

          1. Subjects who are not able or are not willing to comply with the procedures of this
             protocol

          2. Subjects with any major medical problem that will prevent them from participating in
             this study

          3. Male subjects who participated in the prior study ECP-003 sponsored by Edimer
             Pharmaceuticals Inc. in May 2011 in San Francisco, CA

          4. Males at risk for XLHED with prior genetic testing that did not reveal an EDA mutation

Gender

All

Ages

4 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Dorothy K Grange, MD, ,

Location Countries

United States

Location Countries

United States

Administrative Informations

NCT ID

NCT01871714

Organization ID

ECP-014

Responsible Party

Sponsor

Study Sponsor

Edimer Pharmaceuticals

Study Sponsor

Dorothy K Grange, MD, Principal Investigator, Washington University School of Medicine

Verification Date

November 2013