- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01629940
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status (ECP-013)
The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED). FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. A frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be also be recruited.
A subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status.
Study Overview
Status
Detailed Description
As the first exploratory objective for this study, we propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for XLHED. While 3D facial profiling has been reported in HED, the technology does not meet the ease-of-use criteria for a universal screening tool. FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. All males at risk for a diagnosis of XLHED and attending the 2012 NFED Family Conference will be eligible to participate. A short medical questionnaire will verify the clinical presentation, they will be requested to provide a baby photograph taken at up to 1 month of age (to be returned at study completion), and a frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be recruited at the 2012 NFED Family Conference for the photography study, in addition to the control data already available in the FDNA database.
As a second exploratory objective, a subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status. HED-affected patients in general (including XLHED) are reported to have evidence of growth restriction (weight for height) in this age range without clear mechanistic evidence. A screening panel of nutritional laboratory tests has been designed in collaboration with experts in the field at the University of California, San Francisco (UCSF). Anonymized samples will be analyzed at UCSF.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
Florida
-
Orlando, Florida, United States, 22206
- Buenavista Palace Hotel and Spa
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- ADULT
- OLDER_ADULT
- CHILD
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Males of any age who are registered and attending the 2012 NFED Family Conference;
Conform to one of the following requirements for providing informed consent/assent:
- if more than 18 years of age, subjects must provide signed informed consent;
- if less than 18 years of age and it is determined that the subject is capable of providing assent, both the assent of the subject and consent of the parent(s) or guardian of that subject must be granted. Under this condition, both parents of the subject should give their permission, unless 1 parent is deceased, unknown, incompetent, or not available;
- if the subject is incapable of providing assent, the consent of the parent(s) or guardian of the subject must be granted. Under this condition, both parents should give their consent, unless 1 parent is deceased, unknown, incompetent, or not available.
As described in Section 3.2 above, subjects must meet one of the following criteria:
- Male subjects of original gender with genetic confirmation of an EDA mutation or with the clinical characteristics of HED including a history of decreased sweating;
- Unaffected, healthy male controls.
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.
- HED-affected male subjects who have had prior genetic testing confirming they do not have the X-linked form of the disorder.
Study Plan
How is the study designed?
Cohorts and Interventions
Group / Cohort |
---|
Male controls
Male subjects not affected by HED
|
Male HED-Affected Individuals
Male subjects affected by HED
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Time Frame: Study day 1 - Day of study conduct
|
Study day 1 - Day of study conduct
|
Exploratory Objective - To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs
Time Frame: Study day 1 - Day of study conduct
|
Study day 1 - Day of study conduct
|
Exploratory Objective - To identify nutritional patterns associated with XLHED
Time Frame: Study day 1 - Day of study conduct
|
Study day 1 - Day of study conduct
|
Exploratory Objective - To test for the presence of genetic mutations in a subset of HED-affected subjects enrolled in this study who lack prior genetic diagnosis
Time Frame: Study day 1 - Day of study conduct
|
Study day 1 - Day of study conduct
|
Collaborators and Investigators
Sponsor
Study record dates
Study Major Dates
Study Start
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ESTIMATE)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- ECP-013
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on X-linked Hypohidrotic Ectodermal Dysplasia
-
Edimer PharmaceuticalsCompletedX-linked Hypohidrotic Ectodermal DysplasiaUnited States
-
Edimer PharmaceuticalsActive, not recruitingX-linked Hypohidrotic Ectodermal DysplasiaUnited States, United Kingdom, France, Germany, Italy
-
University Hospital ErlangenEdimer PharmaceuticalsCompletedX-linked Hypohidrotic Ectodermal DysplasiaGermany
-
Edimer PharmaceuticalsCompletedX Linked Hypohidrotic Ectodermal DysplasiaUnited States
-
EspeRare FoundationIqvia Pty Ltd; Pierre Fabre MedicamentRecruitingX-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)United States, Spain, France, Germany, Italy, United Kingdom
-
Edimer PharmaceuticalsCompletedX-linked Hypohidrotic Ectodermal Dysplasia | Hypohidrotic Ectodermal DysplasiaSpain
-
Edimer PharmaceuticalsCompleted
-
Edimer PharmaceuticalsCompletedX-Linked Hypohidrotic Ectodermal DysplasiaUnited States, United Kingdom, France, Germany, Italy
-
Edimer PharmaceuticalsCompletedX-Linked Hypohidrotic Ectodermal DysplasiaUnited States, United Kingdom, France, Germany, Italy
-
Edimer PharmaceuticalsCompletedHypohidrotic Ectodermal Dysplasia | X-Linked Hypohidrotic Ectodermal DysplasiaUnited States