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

Edimer Pharmaceuticals

Status: Completed

Conditions: X Linked Hypohidrotic Ectodermal Dysplasia

Study type: Observational

Funder types: Industry

Identifiers

NCT01871714

ECP-014

Details and patient eligibility

About

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

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males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.

Enrollment: 30 patients

Sex: All

Ages: 4+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

30 participants in 3 patient groups

XLHED affected Males

Description:

All males ages 4 and up affected by XLHED

Females affected by XLHED

Description:

Adult females (ages 18-45) affected by XLHED

Unaffected females

Description:

Unaffected adult female controls (ages 18-45)