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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Edimer Pharmaceuticals
ClinicalTrials.gov Identifier:
NCT01871714
First received: June 3, 2013
Last updated: November 25, 2013
Last verified: November 2013
  Purpose

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


Condition
X Linked Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Official Title: Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition

Resource links provided by NLM:


Further study details as provided by Edimer Pharmaceuticals:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Study day 1 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Study day 1 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Study day 1 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Study day 1 ] [ Designated as safety issue: No ]
    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


Biospecimen Retention:   Samples With DNA

Genetic tests will be carried out in a subset of subject in order to confirm XLHED status.


Enrollment: 30
Study Start Date: May 2013
Study Completion Date: September 2013
Primary Completion Date: July 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts
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)

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.

  Eligibility

Ages Eligible for Study:   4 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

XLHED affected males and females and unaffected female controls

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01871714

Locations
United States, Texas
Omni Houston Hotel
Houston, Texas, United States, 77056
Sponsors and Collaborators
Edimer Pharmaceuticals
Investigators
Principal Investigator: Dorothy K Grange, MD Washington University Early Recognition Center
  More Information

Additional Information:
No publications provided

Responsible Party: Edimer Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01871714     History of Changes
Other Study ID Numbers: ECP-014
Study First Received: June 3, 2013
Last Updated: November 25, 2013
Health Authority: United States: Food and Drug Administration

Keywords provided by Edimer Pharmaceuticals:
XLHED
HED
Hypohidrotic Ectodermal Dysplasia
X Linked Hypohidrotic Ectodermal Dysplasia

Additional relevant MeSH terms:
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on July 24, 2014