Phenotypic Properties in Individuals Affected With XLHED (ECP-014)

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

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

Study Overview

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

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males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.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
• Enrollment (Actual): 30

Contacts and Locations

Study Locations

• United States
  • Texas
    • Houston, Texas, United States, 77056
      • Omni Houston Hotel

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

XLHED affected males and females and unaffected female controls

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
XLHED affected Males; All males ages 4 and up affected by XLHED
Females affected by XLHED; Adult females (ages 18-45) affected by XLHED
Unaffected females; Unaffected adult female controls (ages 18-45)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls	To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls using a medical questionnaire	Study day 1
To test and refine a computer algorithm for facial recognition of XLHED	To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs obtained from subjects at risk for XLHED and controls	Study day 1
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males	To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males	Study day 1
To test for the presence of genetic mutations in subjects at risk for XLHED	To test for the presence of genetic mutations in subjects at risk for XLHED who lack prior genetic diagnosis	Study day 1
To test the validity of a using saliva samples for genetic testing	To test the validity of a using saliva samples for genetic testing buy simultaneously perform genetic testing on blood and salvia and comparing the mutations identified	Study day 1

Collaborators and Investigators

• Sponsor: Edimer Pharmaceuticals

Publications and helpful links

Helpful Links

• Sponsor website

Study record dates

Study Major Dates

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

Study Registration Dates

• First Submitted: June 3, 2013
• First Submitted That Met QC Criteria: June 6, 2013
• First Posted (ESTIMATE): June 7, 2013

Study Record Updates

• Last Update Posted (ESTIMATE): November 27, 2013
• Last Update Submitted That Met QC Criteria: November 25, 2013
• Last Verified: November 1, 2013

More Information

Terms related to this study

• Keywords: HED; XLHED; Hypohidrotic Ectodermal Dysplasia; X Linked Hypohidrotic Ectodermal Dysplasia
• Additional Relevant MeSH Terms: Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Skin Diseases, Genetic; Skin Abnormalities; Abnormalities, Multiple; Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic
• Other Study ID Numbers: ECP-014