X-linked Hypohidrotic Ectodermal DysplasiaECP-012NCT01629927
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
An observational study of X-linked Hypohidrotic Ectodermal Dysplasia and Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in Spain.
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. Read more about this study
- Who is it for?
- Ages 1 year and older, men onlyHealthy volunteers can take part
- Conditions the study is for
- X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
- How many people
- 30 participants
- Where
- 1 siteSpain
- Study dates
- Mar 2012to Jun 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- Men only
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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;
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- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Keywords
- X-linked hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, HED, XLHED
- Medical subject headings
- Ectodermal Dysplasia 1, Anhidrotic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| HED-affected males | Male subjects affected by HED | |
| Male controls | Male subjects not affected by HED |
What is being measured
The primary outcome is the main question the study is designed to answer.
Collecting demographic and clinical status information in XLHED affected males and unaffected male siblings using a medical questionnaire and clinical photographs
Measured: 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
Measured: 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
Measured: Study day 1 - Day of study conduct
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2012 (estimated)
- Study startMar 2012
- Primary completionApr 2012
- Study completionJun 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked Hypohidrotic Ectodermal DysplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- Edimer Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Encarna Navarro, MD, PhD, Principal investigator, Hospital Universitario Virgen de la Arrixaca
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01629927
- Sponsor's protocol ID
- ECP-012
- Acronym
- ECP-012
- Status last verified
- Jun 2012
- First submitted
- 26 Jun 2012
- Last updated
- 28 Jun 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jun 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
- ClinicalTrials.gov ID
- NCT01629927
- Acronym / sponsor ID
- ECP-012 / ECP-012
- Keywords
- X-linked hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, HED, XLHED
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Mar 2012
- Primary completion
- Apr 2012 (actual)
- Study completion
- Jun 2012 (actual)
- First posted
- 28 Jun 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| HED-affected males | – | –Male subjects affected by HED |
| Male controls | – | –Male subjects not affected by HED |
Who may qualify
- Ages
- 1 year and older
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (11 listed)
- 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:
- Can provide documentation of genetic testing results positive for an EDA gene mutation /deletion;
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
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
1 secondary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jun 2012.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Encarna Navarro, MD, PhD principal investigator
Hospital Universitario Virgen de la Arrixaca
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-linked Hypohidrotic Ectodermal Dysplasia and Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Jun 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jun 2012.