Brief Title
Phenotypic Properties in Individuals Affected With XLHED
Official Title
Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition
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males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.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 Type
Observational
Primary Outcome
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls
Condition
X Linked Hypohidrotic Ectodermal Dysplasia
Study Arms / Comparison Groups
XLHED affected Males
Description: All males ages 4 and up affected by XLHED
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
30
Start Date
May 2013
Completion Date
September 2013
Primary Completion Date
July 2013
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
Gender
All
Ages
4 Years - N/A
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Contacts
Dorothy K Grange, MD, ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT01871714
Organization ID
ECP-014
Responsible Party
Sponsor
Study Sponsor
Edimer Pharmaceuticals
Study Sponsor
Dorothy K Grange, MD, Principal Investigator, Washington University School of Medicine
Verification Date
November 2013