ClinicalTrials.gg
CompletedNCT01308333Updated Jan 8, 2014

Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia

An observational study in X-linked Hypohidrotic Ectodermal Dysplasia, sponsored by University Hospital Erlangen. Completed at 1 site in Germany. Open to male participants aged 6 Years to 60 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2014-01-08.

Sponsored by University Hospital Erlangen · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
38
Ages
6 Years to 60 Years
Sex
Male
01

Study summary

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia. Insufficient function of the respective glands may lead to chronic inflammatory processes in airways and eyes of the affected individuals. The investigators will quantify sweat glands of XLHED patients, assess chronic conjunctivitis and blepharitis in conjunction with quantitative and/or qualitative alterations of lacrimal fluid in these subjects, evaluate lung function and assess chronic inflammatory processes in the airways by NO measurements. The data should provide a basis for genotype-phenotype correlations.

02

Conditions studied

  • X-linked Hypohidrotic Ectodermal Dysplasia
03

In context

Ectodermal Dysplasia 1, Anhidrotic

20 studies on the registry are indexed under Ectodermal Dysplasia 1, Anhidrotic; 1 is open to participants now.

This study's enrollment of 38 is above the median of 33 across 16 observational studies indexed under Ectodermal Dysplasia 1, Anhidrotic.

Browse Ectodermal Dysplasia 1, Anhidrotic studies →

Lead sponsor

University Hospital Erlangen is the lead sponsor of 28 studies on the registry; 3 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
6 Years to 60 Years
Sexes eligible
Male
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) and healthy controls

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA
  • written informed consent

Exclusion criteria

Exclusion Criteria:

  • acute respiratory disease
  • acute allergic problem, e.g. allergic coryza
  • implantable electronic devices, e.g. pacemaker
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
38 participants (actual)
Biospecimen retention
Samples without dna

Groups and cohorts

  • XLHED children
  • XLHED adults
  • Control children
  • Control adults
06

Study locations

1 site
  • University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias
    Erlangen, Bavaria, Germany
07

References and documents

Publications

  • Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, Schneider H. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr. 2013 Aug;172(8):1023-31. doi: 10.1007/s00431-013-1985-8. Epub 2013 Apr 4. PubMed 23553579 ↗
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jan 8, 2014, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT01308333
Lead sponsor
University Hospital Erlangen
Collaborators
Edimer Pharmaceuticals
Responsible party
Prof. Dr. Holm Schneider (Head of the Division of Molecular Pediatrics, University Hospital Erlangen) — Principal investigator
First posted
Mar 4, 2011
Start date
Apr 2011
Primary completion
Nov 2011
Completion
Nov 2011
Last update
Jan 8, 2014

Study contacts

Holm Schneider, MD
principal investigator · University Hospital Erlangen
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jan 2014. You cannot join it, but the record below documents what was studied.

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Start the discussion