Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

NCT01386775 | Completed

• 1 other identifier: ECP-007
• Study Type: observational
• Target: 64
• Locations: 1 country
• Sites: 1

Brief Summary

This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to assess the ability to use innovative approaches to generate data from subjects over a wide age spectrum, with particular emphasis on phenotype variability between male siblings (same mutation).

Conditions

Hypohidrotic Ectodermal Dysplasia

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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 ducts and the rate of sweating

  Day 1

  Day of study conduct

Secondary Outcomes (4)

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

  Day of study conduct

• Assessment of intrafamilial phenotypic variability in families with multiple HED-affected male siblings

  Day of study conduct

• Evaluation of hair RNA profiles in samples from HED and unaffected male controls

  Day of study conduct

• Confirming the presence of ectodysplasin A (EDA) gene mutations in HED subjects enrolled in this study

  Day of study conduct

Study Arms (2)

HED Affected Males

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

Attendees of the National Foundation for Ectodermal Dysplasia's (NFED) 2011 Annual Family Conference

You may qualify if:

• Registered and attending the 2011 NFED Family Conference;
• One year of age or greater;
• 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 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 (Male HED subjects with an affected sibling also enrolling in the study will be given priority to be in the study);
• 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;
• Known hypersensitivity to lidocaine or lidocaine like agents;
• 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)

Hilton Garden Inn St. Louis Shiloh/O'Fallon

O'Fallon, Illinois, 62269, United States

Location

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 29, 2011
• First Posted: July 1, 2011
• Study Start: June 1, 2011
• Primary Completion: July 1, 2011
• Study Completion: September 1, 2011
• Last Updated: June 28, 2012

Record last verified: 2012-06

Locations

US (1)