Phenotypic Properties in Individuals Affected With XLHED (ECP-014)
Primary Purpose
X Linked Hypohidrotic Ectodermal Dysplasia
Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for X Linked Hypohidrotic Ectodermal Dysplasia focused on measuring XLHED, HED, Hypohidrotic Ectodermal Dysplasia, X Linked Hypohidrotic Ectodermal Dysplasia
Eligibility Criteria
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
Sites / Locations
- Omni Houston Hotel
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm Type
Arm Label
XLHED affected Males
Females affected by XLHED
Unaffected females
Arm Description
All males ages 4 and up affected by XLHED
Adult females (ages 18-45) affected by XLHED
Unaffected adult female controls (ages 18-45)
Outcomes
Primary Outcome Measures
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls
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
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
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
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
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
Secondary Outcome Measures
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT01871714
Brief Title
Phenotypic Properties in Individuals Affected With XLHED
Acronym
ECP-014
Official Title
Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition
Study Type
Observational
2. Study Status
Record Verification Date
November 2013
Overall Recruitment Status
Completed
Study Start Date
May 2013 (undefined)
Primary Completion Date
July 2013 (Actual)
Study Completion Date
September 2013 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Edimer Pharmaceuticals
4. Oversight
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
X Linked Hypohidrotic Ectodermal Dysplasia
Keywords
XLHED, HED, Hypohidrotic Ectodermal Dysplasia, X Linked Hypohidrotic Ectodermal Dysplasia
7. Study Design
Enrollment
30 (Actual)
Biospecimen Retention
Samples With DNA
Biospecimen Description
Genetic tests will be carried out in a subset of subject in order to confirm XLHED status.
8. Arms, Groups, and Interventions
Arm Title
XLHED affected Males
Arm Description
All males ages 4 and up affected by XLHED
Arm Title
Females affected by XLHED
Arm Description
Adult females (ages 18-45) affected by XLHED
Arm Title
Unaffected females
Arm Description
Unaffected adult female controls (ages 18-45)
Primary Outcome Measure Information:
Title
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls
Description
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
Time Frame
Study day 1
Title
To test and refine a computer algorithm for facial recognition of XLHED
Description
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
Time Frame
Study day 1
Title
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
Description
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
Time Frame
Study day 1
Title
To test for the presence of genetic mutations in subjects at risk for XLHED
Description
To test for the presence of genetic mutations in subjects at risk for XLHED who lack prior genetic diagnosis
Time Frame
Study day 1
Title
To test the validity of a using saliva samples for genetic testing
Description
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
Time Frame
Study day 1
10. Eligibility
Sex
All
Minimum Age & Unit of Time
4 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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
Study Population Description
XLHED affected males and females and unaffected female controls
Sampling Method
Non-Probability Sample
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Dorothy K Grange, MD
Organizational Affiliation
Washington University School of Medicine
Official's Role
Principal Investigator
Facility Information:
Facility Name
Omni Houston Hotel
City
Houston
State/Province
Texas
ZIP/Postal Code
77056
Country
United States
12. IPD Sharing Statement
Links:
URL
http://edimerpharma.com
Description
Sponsor website
Learn more about this trial
Phenotypic Properties in Individuals Affected With XLHED
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