NCT01398397

Brief Summary

This study is being done to collect information about people who have or may have Hypohidrotic Ectodermal Dysplasia (HED) or X-linked Hypohidrotic Ectodermal Dysplasia (XLHED). This study will allow Edimer Pharmaceuticals to know more about HED/XLHED so that hopefully the investigators can develop a drug to treat this condition. In this study Edimer will retrospectively review and abstract (summarize) medical records of people that have or may have HED/XLHED in order to further understand the natural history and disease characteristics.

Trial Health

80
On Track

Trial Health Score

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

Enrollment
11

participants targeted

Target at below P25 for all trials

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

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 2011

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

July 19, 2011

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 20, 2011

Completed
Last Updated

June 28, 2012

Status Verified

June 1, 2012

First QC Date

July 19, 2011

Last Update Submit

June 26, 2012

Conditions

Hypohidrotic Ectodermal DysplasiaX-Linked Hypohidrotic Ectodermal Dysplasia

Keywords

HEDXLHEDX-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

The study will enroll up to fifty HED/XLHED affected individuals.

You may qualify if:

  • Males or females with:
  • the clinical characteristics of HED, including at least two of the following characteristics: a history of decreased sweating;abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns);sparseness of scalp and body hair.
  • OR-
  • genetically confirmed HED or XLHED;

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Edimer Pharmaceuticals

Cambridge, Massachusetts, 02142, United States

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 Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
RETROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 19, 2011

First Posted

July 20, 2011

Study Start

April 1, 2011

Last Updated

June 28, 2012

Record last verified: 2012-06

Locations

US(1)