Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia

NCT01108770 | Completed

• 1 other identifier: ECP-001
• Study Type: observational
• Target: 62
• Locations: 1 country
• Sites: 1

Brief Summary

To characterize skin properties in male subjects with HED

Conditions

Ectodermal Dysplasia

Keywords

HED; XLHED; Hypohidrotic Ectodermal Dysplasia

Outcome Measures

Primary Outcomes (1)

• Characterization of skin properties in HED affected male subjects compared with healthy controls

  The primary objective of this descriptive study is to use skin assessment techniques to characterize skin properties in male subjects affected by HED compared with healthy controls including determination of the number of sweat glands and the rate of sweating.

  Two assessments conducted once during study day.

Secondary Outcomes (2)

• Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire.

  Collected once during study day.

• Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study.

  Collected once during study day.

Study Arms (2)

HED affected males

Unaffected male controls

Eligibility Criteria

• Age: 1 Year+
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Male subjects with HED or unaffected controls

You may qualify if:

• Registered and attending the 2010 NFED Family Conference;
• One year of age or greater;
• Conform to one of the following requirements for providing informed consent:
• 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.
• Subjects must meet one of the following criteria:
• Male subjects of original gender with the clinical characteristics of HED, including at least a history of decreased sweating and either abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns), and/or sparseness of scalp and body hair;
• Healthy male controls, i.e. either unaffected male family members or unaffected male volunteers.

You may not qualify if:

• Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists.
• Presence of pacemakers.
• 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.

Sponsors & Collaborators

• Edimer Pharmaceuticals: lead

Study Sites (1)

Cheyenne Mountain Resort

Colorado Springs, Colorado, 80906, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

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

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: April 21, 2010
• First Posted: April 22, 2010
• Study Start: July 1, 2010
• Primary Completion: July 1, 2010
• Study Completion: October 1, 2010
• Last Updated: August 21, 2012

Record last verified: 2012-08

Locations

US (1)