Phenotypic Properties in Individuals Affected With XLHED

NCT01871714 | Completed

• 1 other identifier: ECP-014
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.

Conditions

X Linked Hypohidrotic Ectodermal Dysplasia

Keywords

XLHED; HED; Hypohidrotic Ectodermal Dysplasia; X Linked Hypohidrotic Ectodermal Dysplasia

Outcome Measures

Primary Outcomes (5)

• 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

  Study day 1

• 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

  Study day 1

• 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

  Study day 1

• 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

  Study day 1

• 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

  Study day 1

Study Arms (3)

XLHED affected Males

All males ages 4 and up affected by XLHED

Females affected by XLHED

Adult females (ages 18-45) affected by XLHED

Unaffected females

Unaffected adult female controls (ages 18-45)

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

XLHED affected males and females and unaffected female controls

You may qualify if:

• 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

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
• 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

Sponsors & Collaborators

• Edimer Pharmaceuticals: lead

Study Sites (1)

Omni Houston Hotel

Houston, Texas, 77056, United States

Location

Related Links

• Sponsor website

Biospecimen

Retention: SAMPLES WITH DNA

Genetic tests will be carried out in a subset of subject in order to confirm XLHED status.

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 3, 2013
• First Posted: June 7, 2013
• Study Start: May 1, 2013
• Primary Completion: July 1, 2013
• Study Completion: September 1, 2013
• Last Updated: November 27, 2013

Record last verified: 2013-11

Locations

US (1)