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CompletedNCT01398397ECP-006Updated Jun 28, 2012

Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

An observational study in Hypohidrotic Ectodermal Dysplasia and X-Linked Hypohidrotic Ectodermal Dysplasia, sponsored by Edimer Pharmaceuticals. Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2012-06-28.

Sponsored by Edimer Pharmaceuticals · Observational

Study type
Observational
Model
Case-only
Time perspective
Retrospective
Enrollment
11
Sex
All
01

Study 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.

02

Conditions studied

  • Hypohidrotic Ectodermal Dysplasia
  • X-Linked Hypohidrotic Ectodermal Dysplasia

Keywords

  • HED
  • XLHED
  • X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

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

Eligibility criteria

Inclusion Criteria:

-Males or females with:

  1. 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-

  2. genetically confirmed HED or XLHED;
04

Study design

Observational model
Case-only
Time perspective
Retrospective
Enrollment
11 participants (actual)
05

Study locations

1 site
  • Edimer Pharmaceuticals
    Cambridge, Massachusetts 02142, United States
06

Registry details

Key details

Study ID
NCT01398397
Lead sponsor
Edimer Pharmaceuticals
Collaborators
National Foundation of Ectodermal Dysplasia
Responsible party
Sponsor
First posted
Jul 20, 2011
Start date
Apr 2011
Last update
Jun 28, 2012

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jun 2012. You cannot join it, but the record below documents what was studied.

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