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

NCT01629940 | Completed

• 1 other identifier: ECP-013
• Study Type: observational
• Target: 36
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

X-linked Hypohidrotic Ectodermal Dysplasia; Hypohidrotic Ectodermal Dysplasia

Keywords

X-linked Hypohidrotic Ectodermal Dysplasia; Hypohidrotic Ectodermal Dysplasia; XLHED; HED

Outcome Measures

Primary Outcomes (4)

• Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire

  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

  Study day 1 - Day of study conduct

• Exploratory Objective - To identify nutritional patterns associated with XLHED

  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

  Study day 1 - Day of study conduct

Study Arms (2)

Male HED-Affected Individuals

Male subjects affected by HED

Male controls

Male subjects not affected by HED

Eligibility Criteria

• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Edimer Pharmaceuticals: lead

Study Sites (1)

Buenavista Palace Hotel and Spa

Orlando, Florida, 22206, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Ectodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

Ectodermal Dysplasia; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Abnormalities; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Dorothy K Grange, MD

  Washington University School of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 26, 2012
• First Posted: June 28, 2012
• Study Start: June 1, 2012
• Primary Completion: July 1, 2012
• Study Completion: October 1, 2012
• Last Updated: December 18, 2012

Record last verified: 2012-12

Locations

US (1)