Phenotypic Properties in Individuals Affected With XLHED

Completed

• Conditions: X Linked Hypohidrotic Ectodermal Dysplasia

• Registration Number: NCT01871714
• Lead Sponsor: Edimer Pharmaceuticals

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males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.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

• Study Start: 2013-05
• Study First Submitted: 2013-06-03
• Study First Submitted QC: 2013-06-06
• Study First Posted: 2013-06-07
• Primary Completion: 2013-07
• Study Completion: 2013-09
• Status Verified: 2013-11
• Last Update Submitted: 2013-11-25
• Last Update Posted: 2013-11-27

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls	Study day 1	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
To test and refine a computer algorithm for facial recognition of XLHED	Study day 1	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
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males	Study day 1	To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
To test for the presence of genetic mutations in subjects at risk for XLHED	Study day 1	To test for the presence of genetic mutations in subjects at risk for XLHED who lack prior genetic diagnosis
To test the validity of a using saliva samples for genetic testing	Study day 1	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

Trial Locations

Locations (1)

Omni Houston Hotel; 🇺🇸 Houston, Texas, United States