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

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.

Study Overview

• Status: Completed
• Conditions: X-linked Hypohidrotic Ectodermal Dysplasia; Hypohidrotic Ectodermal Dysplasia

Detailed Description

The study proposes to enroll male subjects affected by XLHED (determined by genetic testing and restricted to age > 1 yr). 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.

• Study Type: Observational
• Enrollment (Actual): 30

Contacts and Locations

Study Locations

• Spain
  • Burgos, Spain
    • Center for Rare Diseases

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• 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.

Description

Inclusion Criteria:

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.

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
HED-affected males; Male subjects affected by HED
Male controls; Male subjects not affected by HED

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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 Outcome Measures

Outcome Measure	Time Frame
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

Collaborators and Investigators

• Sponsor: Edimer Pharmaceuticals
• Investigators: Principal Investigator: Encarna Navarro, MD, PhD, Hospital Universitario Virgen de la Arrixaca

Study record dates

Study Major Dates

• Study Start: March 1, 2012
• Primary Completion (Actual): April 1, 2012
• Study Completion (Actual): June 1, 2012

Study Registration Dates

• First Submitted: June 26, 2012
• First Submitted That Met QC Criteria: June 27, 2012
• First Posted (Estimate): June 28, 2012

Study Record Updates

• Last Update Posted (Estimate): June 28, 2012
• Last Update Submitted That Met QC Criteria: June 27, 2012
• Last Verified: June 1, 2012

More Information

Terms related to this study

• Keywords: X-linked hypohidrotic ectodermal dysplasia; Hypohidrotic ectodermal dysplasia; HED; XLHED
• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Skin Diseases, Genetic; Skin Abnormalities; Abnormalities, Multiple; Hyperplasia; Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic
• Other Study ID Numbers: ECP-012