Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia - Full Text View

Purpose

To characterize skin properties in male subjects with HED

Condition
Ectodermal Dysplasia


Study Type:	Observational
Official Title:	Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members

Resource links provided by NLM:

Genetics Home Reference related topics: anhidrotic ectodermal dysplasia with immune deficiency ankyloblepharon-ectodermal defects-cleft lip/palate syndrome hypohidrotic ectodermal dysplasia

Genetic and Rare Diseases Information Center resources: Ectodermal Dysplasia Hypohidrotic Ectodermal Dysplasia X-linked Hypohidrotic Ectodermal Dysplasia

U.S. FDA Resources

Further study details as provided by Edimer Pharmaceuticals:

Primary Outcome Measures:

Characterization of skin properties in HED affected male subjects compared with healthy controls [ Time Frame: Two assessments conducted once during study day. ] [ Designated as safety issue: No ]
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.

Secondary Outcome Measures:

Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire. [ Time Frame: Collected once during study day. ] [ Designated as safety issue: No ]
Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study. [ Time Frame: Collected once during study day. ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

Blood samples


Enrollment:	62
Study Start Date:	July 2010
Study Completion Date:	October 2010
Primary Completion Date:	July 2010 (Final data collection date for primary outcome measure)

Groups/Cohorts
HED affected males
Unaffected male controls

Detailed Description:

This study is designed to obtain information from male subjects with HED and unaffected male control subjects. The study will consist of the standardized collection of data from HED medical history questionnaires and non-invasive tests. A subset of subjects will undergo genetic testing. All data will be collected from families attending the 2010 NFED Family Conference, July 22-24, 2010, in Colorado Springs, CO.

Since HED is a rare disease, it is difficult to obtain reliable data on a sufficient number of subjects in any one region. The NFED Family Conference is a location where families affected with HED come together, and therefore, presents an ideal location to obtain data needed to design future studies. As the procedures are non-invasive and are designed to take a relatively short period of time, subjects can participate in this study while attending the NFED Family Conference.

Eligibility


Ages Eligible for Study:	1 Year and older (Child, Adult, Senior)
Genders Eligible for Study:	Male
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

Male subjects with HED or unaffected controls

Criteria

Inclusion Criteria:

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.

Exclusion Criteria:

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.

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: NCT01108770

Locations


United States, Colorado
Cheyenne Mountain Resort
Colorado Springs, Colorado, United States, 80906

Sponsors and Collaborators

Edimer Pharmaceuticals

Investigators


Principal Investigator:	Dorothy K Grange, MD	Washington University School of Medicine

More Information


Responsible Party:	Edimer Pharmaceuticals
ClinicalTrials.gov Identifier:	NCT01108770 History of Changes
Other Study ID Numbers:	ECP-001
Study First Received:	April 21, 2010
Last Updated:	August 20, 2012
Health Authority:	United States: Institutional Review Board

Keywords provided by Edimer Pharmaceuticals:


HED XLHED Hypohidrotic Ectodermal Dysplasia

Additional relevant MeSH terms:


Hyperplasia Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Pathologic Processes Abnormalities, Multiple Congenital Abnormalities	Skin Abnormalities Skin Diseases, Genetic Genetic Diseases, Inborn Skin Diseases Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on September 29, 2016