Hypohidrotic Ectodermal DysplasiaNCT01109290
Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
An observational study of Hypohidrotic Ectodermal Dysplasia, run by University Hospital Erlangen at 1 site in Germany.
Trial summary
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth. Inability to sweat may result in episodes of severe hyperthermia and cause sudden infant death. Read more about this study
- Who is it for?
- Ages Up to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Hypohidrotic Ectodermal Dysplasia
- How many people
- 65 participants
- Where
- 1 siteGermany
- Study dates
- Apr 2010to Jun 2011
- 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 Up to 60 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: subjects with recessively inherited hypohidrotic ectodermal dysplasia (HED), their heterozygous family members and healthy controls
Who may be able to join
- for patients: hypohidrotic ectodermal dysplasia caused by mutations in the genes EDA or EDAR
- written informed consent
Who cannot join
- febrile disease
- pregnancy or breastfeeding
- implantable electronic devices, e.g. pacemaker
- hypersensitivity to self-adhesive electrodes
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth. Inability to sweat may result in episodes of severe hyperthermia and cause sudden infant death. To assess sweat gland function in HED patients, the investigators will first quantify gland pores in a defined area of the palm and then stimulate the glands by pilocarpine followed by sweat collection in a special capillary for volume determination. This will be combined with non-invasive skin conductance measurement prior and subsequent to stimulation of the sympathetic nervous system. The data should provide a basis for genotype-phenotype correlation.
- Conditions
- Hypohidrotic Ectodermal Dysplasia
- 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 children | Not described | |
| HED adults | Not described | |
| Control children | Not described | |
| Control adults | Not described |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2010 (estimated)
- Study startApr 2010
- Primary completionAug 2010
- Study completionJun 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 65 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital Erlangen
- Sponsor type
- University, hospital or other
- Collaborators
- Edimer Pharmaceuticals
- Responsible party
- Principal investigator, Prof. Dr. Holm Schneider, University Hospital Erlangen
- Investigators
- Holm Schneider, MD, Principal investigator, University Hospital Erlangen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01109290
- Sponsor's protocol ID
- ED10
- Status last verified
- Sep 2011
- First submitted
- 21 Apr 2010
- Last updated
- 14 Sep 2011
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Sep 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls
- ClinicalTrials.gov ID
- NCT01109290
- Acronym / sponsor ID
- ED10
- Conditions
- Hypohidrotic Ectodermal Dysplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 65 participants (actual)
- Lead sponsor
- University Hospital ErlangenUniversity, hospital or other
- Collaborators
- Edimer Pharmaceuticals
- Study start
- Apr 2010
- Primary completion
- Aug 2010 (actual)
- Study completion
- Jun 2011 (actual)
- First posted
- 23 Apr 2010 (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.
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth. Inability to sweat may result in episodes of severe hyperthermia and cause sudden infant death. To assess sweat gland function in HED patients, the investigators will first quantify gland pores in a defined area of the palm and then stimulate the glands by pilocarpine followed by sweat collection in a special capillary for volume determination. This will be combined with non-invasive skin conductance measurement prior and subsequent to stimulation of the sympathetic nervous system. The data should provide a basis for genotype-phenotype correlation.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| HED children | – | – |
| HED adults | – | – |
| Control children | – | – |
| Control adults | – | – |
Who may qualify
- Ages
- Up to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- subjects with recessively inherited hypohidrotic ectodermal dysplasia (HED), their heterozygous family members and healthy controls
Key inclusion criteria (2 listed)
- for patients: hypohidrotic ectodermal dysplasia caused by mutations in the genes EDA or EDAR
- written informed consent
Key exclusion criteria (4 listed)
- febrile disease
- pregnancy or breastfeeding
- implantable electronic devices, e.g. pacemaker
- hypersensitivity to self-adhesive electrodes
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
Not reported in the source record.
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 14 Sep 2011.
Related trials for Hypohidrotic Ectodermal Dysplasia
RecruitingPhase 2
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
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.
Holm Schneider, MD principal investigator
University Hospital Erlangen
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 Hypohidrotic Ectodermal Dysplasia, run by University Hospital Erlangen at 1 site in Germany.
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 2 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 14 Sep 2011. 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 Germany. 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.
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 14 Sep 2011.