Trial record 2 of 27 for:    "ankyloblepharon-ectodermal defects-cleft lip palate syndrome" OR "Ectodermal Dysplasias"

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)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Edimer Pharmaceuticals
ClinicalTrials.gov Identifier:
NCT01629940
First received: June 26, 2012
Last updated: December 17, 2012
Last verified: December 2012
  Purpose

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.


Condition
X-linked Hypohidrotic Ectodermal Dysplasia
Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Official Title: 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

Resource links provided by NLM:


Further study details as provided by Edimer Pharmaceuticals:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • Exploratory Objective - To identify nutritional patterns associated with XLHED [ Time Frame: Study day 1 - Day of study conduct ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Whole blood


Enrollment: 36
Study Start Date: June 2012
Study Completion Date: October 2012
Primary Completion Date: July 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts
Male HED-Affected Individuals
Male subjects affected by HED
Male controls
Male subjects not affected by HED

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.

  Eligibility

Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

This study is being conducted among family members attending the 2012 National Foundation for Ectodermal Dysplasia (NFED) Family Conference, July 19-21, 2012, in Orlando, FL.

Criteria

Inclusion Criteria:

  1. Males of any age who are registered and attending the 2012 NFED Family Conference;
  2. 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.
  3. 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:

  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. HED-affected male subjects who have had prior genetic testing confirming they do not have the X-linked form of the disorder.
  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: NCT01629940

Locations
United States, Florida
Buenavista Palace Hotel and Spa
Orlando, Florida, United States, 22206
Sponsors and Collaborators
Edimer Pharmaceuticals
Investigators
Principal Investigator: Dorothy K Grange, MD Washington University Early Recognition Center
  More Information

No publications provided

Responsible Party: Edimer Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01629940     History of Changes
Other Study ID Numbers: ECP-013
Study First Received: June 26, 2012
Last Updated: December 17, 2012
Health Authority: United States: Food and Drug Administration

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

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

ClinicalTrials.gov processed this record on July 26, 2014