Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)

NCT01629927 | Completed

• 1 other identifier: ECP-012
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

The study proposes to enroll male subjects affected by Hypohidrotic Ectodermal Dysplasia (XLHED). The sweat duct images will be acquired with a CE marked skin-imaging device and the sweat rate will be measured using a CE marked pilocarpine iontophoresis and collection system. The technologies for both imaging of sweat ducts and the measurement of maximal sweat rate have been used safely and without adverse events in our prior studies involving HED/XLHED subjects. Furthermore, this study will assess the feasibility of developing a non-invasive screening tool that will enable detection of clinical signs of XLHED based on an analysis of a two dimensional frontal photograph.

Conditions

X-linked Hypohidrotic Ectodermal Dysplasia; Hypohidrotic Ectodermal Dysplasia

Keywords

X-linked hypohidrotic ectodermal dysplasia; Hypohidrotic ectodermal dysplasia; HED; XLHED

Outcome Measures

Primary Outcomes (2)

• Collecting demographic and clinical status information in XLHED affected males and unaffected male siblings using a medical questionnaire and clinical photographs

  Study day 1 - Day of study conduct

• Assess the feasibility of developing a non-invasive newborn screening tool, which will enable detection of clinical symptoms of HED/XLHED at birth, based on an analysis of a two dimensional photograph

  Study day 1 - Day of study conduct

Secondary Outcomes (1)

• The secondary objective of this descriptive study is to use skin assessment techniques to characterize skin properties in male subjects affected by XLHED compared with unaffected male sibling controls, including determination of the number of sweat ducts

  Study day 1 - Day of study conduct

Study Arms (2)

HED-affected males

Male subjects affected by HED

Male controls

Male subjects not affected by HED

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

This study is being conducted among family members attending the 2012 Spanish Association for those Affected by Ectodermal Dysplasia Annual Reunion, March 30-April 1, 2012, at the Center for Rare Diseases in Burgos, Spain.

You may qualify if:

• Subjects must meet all of the following criteria to be enrolled in this study.
• Attending the 2012 Spanish Association for those Affected by Ectodermal Dysplasia Annual Reunion;
• 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.
• Can provide documentation of genetic testing results positive for an EDA gene mutation /deletion;
• As described in Section 3.2 above, subjects must meet one of the following criteria:
• Documented diagnosis of XLHED confirmed via genetic testing;
• Unaffected male controls.

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)

Center for Rare Diseases

Burgos, Spain

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

• Encarna Navarro, MD, PhD

  Hospital Universitario Virgen de la Arrixaca

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 26, 2012
• First Posted: June 28, 2012
• Study Start: March 1, 2012
• Primary Completion: April 1, 2012
• Study Completion: June 1, 2012
• Last Updated: June 28, 2012

Record last verified: 2012-06

Locations

ES (1)