Skip to main content
OpenTrials
Completed

NCT Number: NCT01871714

Phenotypic Properties in Individuals Affected With XLHED

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

X Linked Hypohidrotic Ectodermal Dysplasia Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Genetic Diseases, Inborn Genetic Diseases, X-Linked Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

4 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Omni Houston Hotel

Houston, Texas, 77056, United States

About this study

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males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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
  • XLHED-affected males of original gender of age 4 yrs and up who are registered and attending the 2013 NFED Family Conference
  • Provide informed consent/assent

Exclusion criteria

  • Subjects who are not able or are not willing to comply with the procedures of this protocol
  • Subjects with any major medical problem that will prevent them from participating in this study
  • Male subjects who participated in the prior study ECP-003 sponsored by Edimer Pharmaceuticals Inc. in May 2011 in San Francisco, CA
  • Males at risk for XLHED with prior genetic testing that did not reveal an EDA mutation

Treatment and study plan

Primary outcomes

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

    Time frame: 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

  2. To test and refine a computer algorithm for facial recognition of XLHED

    Time frame: 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

  3. To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males

    Time frame: Study day 1

    To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males

  4. To test for the presence of genetic mutations in subjects at risk for XLHED

    Time frame: Study day 1

    To test for the presence of genetic mutations in subjects at risk for XLHED who lack prior genetic diagnosis

  5. To test the validity of a using saliva samples for genetic testing

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Edimer Pharmaceuticals

Industry

Registry information

Official study title

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

Acronym: ECP-014

Important dates

Study start
2013
Primary completion
2013
Study completion
2013
First posted
Jun 7, 2013
Registry last updated
Nov 27, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.