Incontinentia pigmenti is a type of ectodermal dysplasia with challenging and complex symptoms. We need more research to understand it better, develop treatments and help parents like Shari Ezell, realize their dreams for their children.
What are your hopes and dreams?
What do you hope and dream for? Read what six families dream about and NFED’s research campaign to make those dreams come true.
Small Steps, Amazing Climbs
Even the tallest mountains can be scaled with enough small but purposeful steps Forever Forward. But not without decades of careful study, testing, steps forward, steps back, and the love and devotion of parents, families and you! Learn how you can help us with our campaign to advance research.
Potential XLHED Treatment Receives FDA Breakthrough Therapy Designation
We are excited to share with you a new development in bringing a therapy for x-linked hypohidrotic ectodermal dysplasia (XLHED) to clinical trial. EspeRare announced today that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation to the protein replacement therapy called ER-004.
Genomenon Releases Genomic Landscape for Ectodermal Dysplasias for Rare Disease Week
The NFED has collaborated with a genomic health IT company to release a new diagnostic tool for ectodermal dysplasias. Genomenon has released a comprehensive dataset that will provide doctors and researchers with genetic insights. Find out how this could lead to better treatments, too.
XLHED Natural History Study Findings Published
The NFED is proud to have funded the first comprehensive investigation of the natural course of XLHED, the most common ectodermal dysplasia, from birth until the age of five years.
Findings from this Natural History Study were recently published in the Orphanet Journal of Rare Diseases. Read more to learn what they found and how the data will be used for the upcoming clinical trial.
Testing a Non-invasive Way to Diagnose XLHED In Utero
Dr. Angus Clark is investigating a new, noninvasive way to diagnose x-linked hypohidrotic ectodermal dysplasia in utero. His findings could help facilitate the upcoming clinical trial for treatment. We are proud to fund this work.
Volunteers Needed for Ongoing AEC/EEC Research
Volunteers are needed for ongoing research to design novel therapies for the treatment of skin and cornea lesions that occur in individuals with ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome or ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The National Foundation for Ectodermal Dysplasias has supported this research led by Maranke Koster, Ph.D. at University of Colorado Denver.