NCT01109290

Brief 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. 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
65

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Apr 2010

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 2010

Completed
20 days until next milestone

First Submitted

Initial submission to the registry

April 21, 2010

Completed
2 days until next milestone

First Posted

Study publicly available on registry

April 23, 2010

Completed
3 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2010

Completed
10 months until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2011

Completed
Last Updated

September 14, 2011

Status Verified

September 1, 2011

Enrollment Period

4 months

First QC Date

April 21, 2010

Last Update Submit

September 13, 2011

Conditions

Hypohidrotic Ectodermal Dysplasia

Study Arms (4)

HED children

HED adults

Control children

Control adults

Eligibility Criteria

AgeUp to 60 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

subjects with recessively inherited hypohidrotic ectodermal dysplasia (HED), their heterozygous family members and healthy controls

You may qualify if:

  • for patients: hypohidrotic ectodermal dysplasia caused by mutations in the genes EDA or EDAR
  • written informed consent

You may not qualify if:

  • febrile disease
  • pregnancy or breastfeeding
  • implantable electronic devices, e.g. pacemaker
  • hypersensitivity to self-adhesive electrodes

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Hospital Erlangen

Erlangen, Bavaria, D-91054, Germany

Location

MeSH Terms

Conditions

Ectodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

Ectodermal DysplasiaAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesGenetic Diseases, X-LinkedGenetic Diseases, InbornSkin Diseases, GeneticSkin DiseasesSkin and Connective Tissue Diseases

Study Officials

  • Holm Schneider, MD

    University Hospital Erlangen

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Head of the Division of Molecular Pediatrics

Study Record Dates

First Submitted

April 21, 2010

First Posted

April 23, 2010

Study Start

April 1, 2010

Primary Completion

August 1, 2010

Study Completion

June 1, 2011

Last Updated

September 14, 2011

Record last verified: 2011-09

Locations

DE(1)