Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

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.

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Key information

Conditions

Hypohidrotic Ectodermal Dysplasia Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Genetic Diseases, Inborn Genetic Diseases, X-Linked Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases X-Linked Hypohidrotic Ectodermal Dysplasia

Sex eligibility

All sexes

Study type

Observational

Primary location

Edimer Pharmaceuticals

Cambridge, Massachusetts, 02142, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

-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;

Sponsors and collaborators

Lead sponsor

Edimer Pharmaceuticals

Industry

Collaborators

National Foundation of Ectodermal Dysplasia

Registry information

Acronym: ECP-006

Important dates

Study start: 2011
First posted: Jul 20, 2011
Registry last updated: Jun 28, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed