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

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ClinicalTrials.gov Identifier: NCT01629927
Recruitment Status : Completed
First Posted : June 28, 2012
Last Update Posted : June 28, 2012
Sponsor:
Information provided by (Responsible Party):
Edimer Pharmaceuticals

Study Description
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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.

Condition or disease
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 Design
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Study Type : Observational
Actual Enrollment : 30 participants
Official Title: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
Study Start Date : March 2012
Actual Primary Completion Date : April 2012
Actual Study Completion Date : June 2012

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Groups and Cohorts
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Group/Cohort
HED-affected males
Male subjects affected by HED
Male controls
Male subjects not affected by HED


Outcome Measures
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Primary Outcome Measures :
  1. 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 ]
  2. 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 Measures :
  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 [ Time Frame: Study day 1 - Day of study conduct ]

Eligibility Criteria
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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
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.
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.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01629927


Locations
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Spain
Center for Rare Diseases
Burgos, Spain
Sponsors and Collaborators
Edimer Pharmaceuticals
Investigators
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Principal Investigator: Encarna Navarro, MD, PhD Hospital Universitario Virgen de la Arrixaca
More Information
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Responsible Party: Edimer Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01629927    
Other Study ID Numbers: ECP-012
First Posted: June 28, 2012    Key Record Dates
Last Update Posted: June 28, 2012
Last Verified: June 2012
Keywords provided by Edimer Pharmaceuticals:
X-linked hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia
HED
XLHED
Additional relevant MeSH terms:
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Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Hyperplasia
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
 Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked