Trial record 3 of 29 for:    "hypohidrotic ectodermal dysplasia" OR "Ectodermal Dysplasia" OR "Anhidrotic Ectodermal Dysplasias" OR "Christ-Siemens-Touraine Syndrome"

Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype (ECP-006)

This study has been completed.
National Foundation of Ectodermal Dysplasia
Information provided by (Responsible Party):
Edimer Pharmaceuticals Identifier:
First received: July 19, 2011
Last updated: June 26, 2012
Last verified: June 2012
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.

Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

Resource links provided by NLM:

Further study details as provided by Edimer Pharmaceuticals:

Enrollment: 11
Study Start Date: April 2011

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study will enroll up to fifty HED/XLHED affected individuals.

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.


  2. genetically confirmed HED or XLHED;
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01398397

United States, Massachusetts
Edimer Pharmaceuticals
Cambridge, Massachusetts, United States, 02142
Sponsors and Collaborators
Edimer Pharmaceuticals
National Foundation of Ectodermal Dysplasia
  More Information

Responsible Party: Edimer Pharmaceuticals Identifier: NCT01398397     History of Changes
Other Study ID Numbers: ECP-006 
Study First Received: July 19, 2011
Last Updated: June 26, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Edimer Pharmaceuticals:
X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Additional relevant MeSH terms:
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Pathologic Processes
Skin Abnormalities
Skin Diseases
Skin Diseases, Genetic processed this record on May 26, 2016