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

Primary Purpose

X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia

Status
Completed
Phase
Locations
Spain
Study Type
Observational
Intervention
Sponsored by
Edimer Pharmaceuticals
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an observational trial for X-linked Hypohidrotic Ectodermal Dysplasia focused on measuring X-linked hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, HED, XLHED

Eligibility Criteria

1 Year - undefined (Child, Adult, Older Adult)MaleAccepts Healthy Volunteers

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.

Sites / Locations

  • Center for Rare Diseases

Arms of the Study

Arm 1

Arm 2

Arm Type

Arm Label

HED-affected males

Male controls

Arm Description

Male subjects affected by HED

Male subjects not affected by HED

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

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

Full Information

First Posted
June 26, 2012
Last Updated
June 27, 2012
Sponsor
Edimer Pharmaceuticals
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1. Study Identification

Unique Protocol Identification Number
NCT01629927
Brief Title
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
Acronym
ECP-012
Official Title
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
Study Type
Observational

2. Study Status

Record Verification Date
June 2012
Overall Recruitment Status
Completed
Study Start Date
March 2012 (undefined)
Primary Completion Date
April 2012 (Actual)
Study Completion Date
June 2012 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Edimer Pharmaceuticals

4. Oversight

Data Monitoring Committee
No

5. Study Description

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.
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
Keywords
X-linked hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, HED, XLHED

7. Study Design

Enrollment
30 (Actual)

8. Arms, Groups, and Interventions

Arm Title
HED-affected males
Arm Description
Male subjects affected by HED
Arm Title
Male controls
Arm Description
Male subjects not affected by HED
Primary Outcome Measure Information:
Title
Collecting demographic and clinical status information in XLHED affected males and unaffected male siblings using a medical questionnaire and clinical photographs
Time Frame
Study day 1 - Day of study conduct
Title
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
Time Frame
Study day 1 - Day of study conduct
Secondary Outcome Measure Information:
Title
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
Time Frame
Study day 1 - Day of study conduct

10. Eligibility

Sex
Male
Minimum Age & Unit of Time
1 Year
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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 Population Description
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.
Sampling Method
Non-Probability Sample
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Encarna Navarro, MD, PhD
Organizational Affiliation
Hospital Universitario Virgen de la Arrixaca
Official's Role
Principal Investigator
Facility Information:
Facility Name
Center for Rare Diseases
City
Burgos
Country
Spain

12. IPD Sharing Statement

Learn more about this trial

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

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