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.
Research the National Foundation for Ectodermal Dysplasias has nurtured for three decades is advancing to a clinical trial. EspeRare has partnered with Dermelix Biotherapeutics to develop DMX-101 as an in-utero protein replacement therapy for the treatment of x-linked hypohidrotic ectodermal dysplasia (XLHED). If approved, the treatment has the potential to be the very first in utero administered drug to correct a genetic condition before birth!
By J. Timothy Wright, DDS, MS How does one best diagnose and understand the clinical manifestations of an individual or family with an ectodermal dysplasia? Furthermore, what exactly is an ectodermal dysplasia? These questions have challenged affected individuals, clinicians and scientists for over 40 years. A decade ago, the National Foundation for Ectodermal Dysplasias (NFED) embarked…
Researchers identified a way to diagnose x-linked hypohidrotic ectodermal dysplasia noninvasively. Learn how and why it’s imporant for a new potential treatment.
The NFED granted funding to Dr. Holm Schneider to help him finish the XLHED Natural History Study. Learn why this data is critical for the prenatal trial.
Researchers are studying whether certain heart problems might be associated with the rare genetic condition known as incontinentia pigmenti (IP). Researchers are seeking affected individuals to participate in their study.
Skin erosion can be life-threatening for people affected by ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome. Two research labs are studying to understand the molecular defects that lead to skin erosions so they can ultimately develop therapies.
Dr. Schneider and his team of investigators have published their groundbreaking research results in a “Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.” We are thrilled to share with you key highlights from their research, what it means for our families affected by XLHED, and the next steps.