Clinical trial NCT01871714: Phenotypic Properties in Individuals Affected With XLHED
Official title: Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: X Linked Hypohidrotic Ectodermal Dysplasia
Keywords: XLHED
HED
Hypohidrotic Ectodermal Dysplasia
X Linked Hypohidrotic Ectodermal Dysplasia
Lead sponsor: Edimer Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2013-06-07
Enrollment: 30
Sex: ALL
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Sampling method: NON_PROBABILITY_SAMPLE
Study population: XLHED affected males and females and unaffected female controls

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males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.

Eligibility 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

Primary outcomes:
measure: To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls
timeFrame: Study day 1
measure: To test and refine a computer algorithm for facial recognition of XLHED
timeFrame: Study day 1
measure: To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
timeFrame: Study day 1
measure: To test for the presence of genetic mutations in subjects at risk for XLHED
timeFrame: Study day 1
measure: To test the validity of a using saliva samples for genetic testing
timeFrame: Study day 1
Secondary outcomes:
Other outcomes:
Locations:
city: Houston
country: United States
facility: Omni Houston Hotel
state: Texas
Study officials:
affiliation: Washington University School of Medicine
name: Dorothy K Grange, MD
role: PRINCIPAL_INVESTIGATOR
References: