Investigation of Chronic Inflammatory Processes in Male I... | NCT01308333

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

NCT01308333

Sponsor

University Hospital Erlangen

Status

Completed

Last Update Posted

Jan 8, 2014Estimated

Enrollment

38Actual

Phase

Not provided

Conditions

X-linked Hypohidrotic Ectodermal Dysplasia

Interventions

Not provided

Countries

Germany

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jan 2014

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 2011

Primary Completion Date

Nov 2011Actual

Completion Date

Nov 2011Actual

First Submitted Date

Mar 3, 2011

First Submission Date that Met QC Criteria

Mar 3, 2011

First Posted Date

Mar 4, 2011Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 7, 2014

Last Update Posted Date

Jan 8, 2014Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Prof. Dr. Holm Schneider, Head of the Division of Molecular Pediatrics, University Hospital ErlangenPrincipal Investigator

Lead Sponsor

University Hospital ErlangenOTHER

Collaborators

Name	Class
Edimer Pharmaceuticals	INDUSTRY

Description Module

Brief 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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

38Actual

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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

Accepts Healthy Volunteers

Yes

Sex

Male

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

6 Years

Maximum Age

60 Years

Standard Ages

ChildAdult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Holm Schneider, MD	University Hospital Erlangen	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias		Erlangen	Bavaria		Germany

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
23553579	Result	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.

Label	Type	Description	Intervention Names
XLHED children
XLHED adults
Control children
Control adults

ID	Term
D004476	Ectodermal Dysplasia
D000015	Abnormalities, Multiple
D000013	Congenital Abnormalities
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities