When Edimer Pharmaceuticals closed in 2016, Dr. Holm Schneider continued the X-Linked Hypohidrotic Ectodermal Dysplasia Natural History Study they started. But, he needed funding to complete it. We were proud to step forward and fund this important work.
Conducting a natural history study of x-linked hypohidrotic ectodermal dysplasia (XLHED) was one of the key steps needed to prepare for a clinical trial of a potential therapy. This kind of study collects health information on people with XLHED to better understand how the disorder naturally develops over time and how to treat it.
The information gleaned can be used in espeRare’s upcoming clinical trial. They can use the data to compare with the symptoms an individual who will receive ER-004 protein prenatally has. This will enable the research team to evaluate the therapy’s effects, if any.
Some Key Findings
The Natural History Study followed 19 males and six females between 11 and 35 months of age who were affected by XLHED. Here are some key findings from their study:
- This first comprehensive study described the course of XLHED during the first five years of life and confirmed the involvement of multiple organs and the need for early therapeutic intervention.
- The females showed milder symptoms than affected boys but all of them had some symptoms. The researchers concluded that females should receive more attention from researchers. They stated:
Although females with XLHED used to be considered only as carriers in numerous publications, it has become well known that most of them are actually affected by XLHED-related symptoms like hypotrichosis, hypodontia, and conically shaped teeth (carrier detection is possible in at least 70% of cases).
- The study confirmed other research findings showing that XLHED affects growth, with most patients in the lower half of growth charts.
Summary from Dr. Scheider’s Team
Below, Dr. Schneider shares that findings from the XLHED Natural History Study have been recently published.
In the most recent issue of the Orphanet Journal of Rare Diseases, an article entitled “Natural history of x-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study” by the group of Dr. Holm Schneider (Erlangen, Germany) has been published. This study is the first comprehensive investigation of the natural course of XLHED, the most common ectodermal dysplasia, from birth until the age of five years.
The findings highlight the early onset and the large spectrum of complications of XLHED pointing to the need of early therapeutic intervention, even before birth. Considering the prospective nature, the duration of this study, and the number of patients followed, the data will be relevant not only for pediatricians and other medical professionals, but also for regulatory agencies who evaluate outcomes from open-label drug trials in patients with XLHED, including an imminent prenatal trial.
The study was funded by Edimer Pharmaceuticals from 2014 to 2016 and by the National Foundation for Ectodermal Dysplasias from 2017 to 2019.Read the Full Findings