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

Completed

Conditions studied: Ectodermal Dysplasia

In brief

To characterize skin properties in male subjects with HED

Key facts

Study ID

NCT01108770

Run by

Edimer Pharmaceuticals

People needed

62

Starts

2010-07-01

Expected to finish

2010-10-01

Last updated by the study team

2012-08-21

Who can join

Age: 1 and older. Sex: male. Healthy volunteers: accepted.

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.

Where it is running

• Cheyenne Mountain Resort — Colorado Springs, Colorado, United States

Full record on ClinicalTrials.gov

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