Women who are exploring prenatal treatment for their son affected by x-linked hypohidrotic ectodermal dysplasia (XLHED) now have an additional site to consider. The Edelife Clinical Trial has added Cedars-Sinai Medical Center in Los Angeles (LA), California.
Cedars-Sinai marks the second location in the United States, with the other one being at Washington University in St. Louis, Missouri. The National Foundation for Ectodermal Dysplasias (NFED) is excited to have a center in the western United States, which may remove a barrier to a family’s participation if they have less travel time.
To date, 10 babies have received treatment in the trial. The goal is to have 15-20. Edelife is also available in France, Germany, Italy, Spain and the United Kingdom. The trial seeks to confirm earlier findings that an investigational medicine called ER-004 is safe and effective for boys affected by XLHED.
Launching the Cedars-Sinai Site
Ophir Klein, M.D., Ph.D. is the principal investigator (PI) at the LA location. He serves as Executive Vice Dean of Children’s Services, Executive Director of Guerin Children’s, the systemwide child health enterprise, and is the David and Meredith Kaplan Distinguished Chair in Children’s Health. Pedro Sanchez, M.D. in genetics and Tania Esakoff, M.D. in ob-gyn/maternal fetal medicine serve as the other two clinical leads on the trial.
Opening a human clinical trial site is a major undertaking. This one has been more than a year in the making. Finding the right people from multiple disciplines to serve on the team, managing budgets and securing institutional review board approval (which provides ethical and regulatory oversight) takes an extraordinary amount of time and effort.
According to the trial sponsors, choosing another U.S. location was easy. They turned to the team which led the Adult Safety Study and the Newborn XLHED Clinical Trial. Dr. Klein led that team, which at the time was at the University of California at San Francisco.
Potential XLHED Treatment is First of Its Kind
Dr. Klein moved to Cedars-Sinai last year and the details began to fall in place. He said that “it’s kind of amazing to be up and running.” He explained why he decided to get involved.
I’m mostly a basic scientist and so it’s very exciting for me to participate in clinical research and see the fruits of the discovery science that has taken decades to complete.
“For me, this treatment is paradigm shifting,” Klein said. “As far as I know, this is the first successful effort to treat a structural birth defect with medicine rather than surgery. It’s really a potentially transformative therapy. Having the opportunity to take something that you find intellectually interesting and see it potentially help people – I just think is really amazing!”
Participating in the Trial is Free
Like at the other sites, Edelife pays for all associated expenses for participating families. This includes transportation, lodging, treatment and more. A concierge service organizes the travel and can help families with babysitting, dog sitting or other services you need to be able to join the trial. Participating families have said the service was easy to work with and very helpful.
How to Learn More or Join the Trial
If you are a woman who has a mutation in the XLHED gene and is pregnant or thinking about becoming pregnant, you can learn more about the treatment on the NFED web site and on the Edelife Clinical Trial site. You can contact Dr. Klein or Dr. Kathy Grange (Washington University / St. Louis, Missouri) directly if you are ready to see if you are eligible and join.
You can also email me or call me at 618-566-2020 and I’m happy to answer your questions or connect you with Dr. Klein. I can also connect you with other moms and dads whose sons have received the treatment if that’s helpful.
Resources for Genetic Testing
Are you a woman with a male relative who has XLHED but you don’t know if you have the gene mutation, too? I encourage you to get genetic testing.
Timing of the prenatal treatment is critical. Pregnant women must be enrolled in the clinical trial during the second trimester, no later than pregnancy week 23. Knowing you have the gene mutation will help expedite the process should you choose to join the trial.
You can apply for an NFED stipend to help offset the cost for testing.
Apply for Genetic Testing StipendOur Gratitude
Edelife has now been open for three years. We are encouraged that this new site will give more XLHED families access to the potential treatment and bring the trial closer to its goal of 15-20 participants.
All of us at the NFED are grateful to Drs. Klein, Esakoff and Sanchez, Cedars-Sinai, EspeRare and Pierre Fabre for helping us bring this life-changing treatment to market.
Our NFED families have been driving XLHED research forward since the late 1980s when our research program began.
We appreciate your commitment to participating in studies and the Edelife Clinical Trial. None of this happens without you!