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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01629927
Other study ID # ECP-012
Secondary ID
Status Completed
Phase N/A
First received June 26, 2012
Last updated June 27, 2012
Start date March 2012
Est. completion date June 2012

Study information

Verified date June 2012
Source Edimer Pharmaceuticals
Contact n/a
Is FDA regulated No
Health authority United States: Food and Drug Administration
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Completed
Enrollment 30
Est. completion date June 2012
Est. primary completion date April 2012
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Male
Age group 1 Year and older
Eligibility 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 Design

N/A


Related Conditions & MeSH terms


Locations

Country Name City State
Spain Center for Rare Diseases Burgos

Sponsors (1)

Lead Sponsor Collaborator
Edimer Pharmaceuticals

Country where clinical trial is conducted

Spain, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 No
Primary 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 No
Secondary 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 No
See also
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Active, not recruiting NCT01992289 - Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 N/A
Completed NCT01629940 - Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status N/A
Completed NCT01398813 - X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey N/A
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Completed NCT01775462 - Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phase 2
Completed NCT01398397 - Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype N/A
Completed NCT01308333 - Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia N/A
Completed NCT01342133 - Sweat Duct Imaging in Mother/Newborn Dyads N/A
Completed NCT01135888 - Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia