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

This study has been completed.
Sponsor:
Collaborator:
National Foundation of Ectodermal Dysplasia
Information provided by (Responsible Party):
Edimer Pharmaceuticals
ClinicalTrials.gov Identifier:
NCT01398397
First received: July 19, 2011
Last updated: June 26, 2012
Last verified: June 2012
  Purpose

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.


Condition
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
  Eligibility

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.

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;
  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 ClinicalTrials.gov identifier: NCT01398397

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

No publications provided

Responsible Party: Edimer Pharmaceuticals
ClinicalTrials.gov 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:
HED
XLHED
X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Additional relevant MeSH terms:
Hyperplasia
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on September 18, 2014