Forever Forward
Marching Toward the Cure!
A ROAD LESS TRAVELED… WHILE ECTODERMAL DYSPLASIAS ARE RARE, THEY OCCUR MORE OFTEN THAN ONCE THOUGHT. CURRENT DATA SUGGEST AT LEAST 3.5 OF EVERY 10,000 CHILDREN BORN ARE AFFECTED BY SOME FORM OF ECTODERMAL DYSPLASIA. THAT MEANS THERE MAY BE MORE THAN TWO MILLION LIVING WITH AN ECTODERMAL DYSPLASIA WORLDWIDE, WITH UP TO 116,000 IN THE UNITED STATES. MANY OF THESE INDIVIDUALS HAVE NOT YET BEEN OFFICIALLY DIAGNOSED.
WE ARE HERE TO HELP! THE NATIONAL FOUNDATION FOR ECTODERMAL DYSPLASIAS PROVIDES AWARENESS, SUPPORT, TREATMENT, HOPE AND ANSWERS TO ALL THOSE BATTLING ECTODERMAL DYSPLASIA. WE PROUDLY SERVE OVER 8,800 FAMILIES ACROSS THE COUNTRY AND AROUND THE WORLD — A NUMBER THAT CLIMBS EVERY DAY!
Come March with Us… Step by Step, Side by Side… We’re Making Footprints in the World of Ectodermal Dysplasias The National Foundation for Ectodermal Dysplasias helps individuals and families affected by this group of rare genetic disorders. Depending on the particular syndrome and severity, the development-shape-function of the teeth, nails, hair, skin, sweat glands, lens or retina of the eye, parts of the inner ear, development of fingers and toes, and nerves may be affected. Each syndrome usually involves a different combination of symptoms. We are forever in motion as we explore treatment and cure options. But we hold one vision clearly before us every step of the way. Together, we will minimize the dramatic effects of ectodermal dysplasias and enable parents and children to proudly —
Say “Yes!” to a future free of fear and filled with confidence and hope.
“My hope is for Liam to not have to think about decisions around having kids. That no matter what, he will believe a cure is available to help his kids have more teeth and less issues with sweating.” — Beth Orchard, mother of Liam, age 5, XLHED
Searching for Answers – Delivering Hope The NFED is dedicated to finding a cure. We have funded research studies at more than 40 centers around the world and have sponsored numerous conferences focused on specific syndromes, classification and therapies. NFED-funded research projects have identified genes for ectodermal dysplasias, established treatment protocols, pioneered a synthetic protein replacement therapy, and characterized many specific syndromes.
Small Steps… Amazing Climbs Even the tallest mountains can eventually be scaled with enough small but purposeful forward steps. With your support, the NFED is inspiring, funding and launching Life Changing Breakthroughs!
Just look at what we’ve done together… Connecting the Dots — A dozen years ago, the NFED brought together clinicians and experts from around the world to better understand the clinical manifestations and causes of different ectodermal dysplasias — and how they could be classified by these criteria. This is creating stronger, more consistent family understanding — and is helping clinicians and researchers work with families to achieve advanced care and treatment protocols worldwide. Breakthrough XLHED Discovery… with Potential to Save Lives! After gene identification, synthetic gene protein creation, and protein replacement studies, a potential in utero treatment for X-linked hypohidrotic ectodermal dysplasia (XLHED) is being fast tracked in Germany. Based on exciting preliminary findings showing development of additional tooth buds and sweat glands, the FDA granted the Breakthrough Therapy Designation this year, paving the way for similar clinical trials to begin in the United States next year. In Hopes of New Skin for Those with p63 — Syndromes like ankyloblepharon-ectodermal defects-cleft lip/and or palate (AEC), ectrodactylyectodermal dysplasia-clefting (EEC), acro–dermato– ungual– lacrimal–tooth (ADULT), and limb-mammary
are caused by mutations in the p63 gene. NFED research funds are focused on the treatment of related skin erosion and corneal abrasions. We hope that one day we will be announcing breakthroughs to grow new, healthy skin — and eventually corneas — for all those with a p63 ectodermal dysplasia. Shining a Light on Goltz — The NFED’s research has created formal diagnostic criteria for Goltz syndrome (focal dermal hypoplasia), an extremely rare and complicated form of ectodermal dysplasia. This was huge! It was published American Journal of Medical Genetics — and it has led to greater, universal understanding of the diagnosis; wide-ranging symptoms affecting the skin, skeletal system, eyes and face; and causes and treatment protocols. We share your dreams of breakthrough treatments and a cure for healthier skin, bones and eyes… and we are hopeful that what we are learning will support this! Exploring the Unknown — In partnership with Baylor College of Medicine, the NFED is working with families lacking a specific diagnosis to learn more about the genetic roots of ectodermal dysplasias. This Unknown Study is vital in helping families understand prognosis, treatment options, health management, necessary vs. unnecessary testing, and family planning decisions. Knowing the syndrome allows an individual to name their condition and take control!
“Discovering a way to end recurring skin lesions would truly be a miracle!” — Priscilla Hernandez, mother of 11-year-old daughter, Vivian, with Goltz.
Forging New Trails A leap of faith... In 1989, the NFED bravely chose to grant its very first research award. Dr. Jon Zonana was awarded $10,000 to study and identify the gene for XLHED. And seven years later, the gene responsible for XLHED was identified. In 2004, Drs. Pascal Schneider and Olivier Gaide created a synthetic version of the protein believed responsible for the development of sweat glands and tooth buds. In the Newborn XLHED Clinical Trial, ten infants affected by XLHED were dosed with the synthetic protein, EDI200, within the first two weeks of life. Unfortunately, results were not as promising as originally hoped. In 2016, German twins with XLHED were dosed with EDI200 in-utero in a special “trial to cure” dispensation from the government. Promising early results showed several additional tooth buds, normal salivation, and properly working sweat glands. The following year, EspeRare secured the rights to EDI200 and renamed it ER-004. Earlier this year, the FDA granted Breakthrough Therapy Designation, allowing ER-004 to be used in trials in the United States. Once funding, treatment partners, and protocols have been confirmed, Phase 2 trials will begin in Germany and in the United States. This is expected to begin in 2021.
Twins treated by Dr. Schneider in-utero with EDI200, consistently produced amounts of sweat similar to infants who are not affected by XLHED. This is in great contrast to their older brother who does not sweat at all.
“XLHED is a huge part of my family. As soon as we learned we had an affected son, I knew we had to do something. It wasn’t a choice for us.” — Sarah Yaroch, on participating in the 2013 clinical trial of EDI200 with her newborn, Andrew.
• $3.6M invested in research studies, conferences, and support services since 1987 • 118 research studies and trials • 1,000+ participants from NFED families
Why Do We Climb? To Reach Our Hopes & Dreams! Ever wonder what it takes to achieve a breakthrough? Research is complicated. It’s expensive. It takes years of hard work and requires countless small steps — some forward and some back. But from beginning to end, it’s these small steps that can become breakthrough results. And this is what can change lives!
Will you march with us?
Nick Duttle, XLHED, climbs at the New River Gorge, WV.
We are determined to change lives, now and in the future… but to do it, we need your help. Will you support these important life-changing research projects? •W orking Sweat Glands and Teeth — Our XLHED project is showing us the incredible promise of in-utero replacement of missing structural proteins with their synthetic counterparts. When done at precisely the right time, this can support appropriate ectodermal structural development. We hope that this breakthrough technique might open doors for other ectodermal dysplasias. •H ealthy, New Skin — With support from the NFED, Drs. Maranke I. Koster and Peter J. Koch made an important discovery regarding skin and eye abnormalities in patients with ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Using a cellular tissue growth technique, they are hoping to harness each patient’s own stem cells to generate new, healthy skin tissue, theoretically preventing tissue rejection and fostering more permanent skin. •E ye Health… for a Lifetime — Similarly, Dr. Koster hopes that the cellular tissue growth technique might eventually be used to prevent corneal abrasions in the eyes of p63 patients.
• Research Needed for Incontinentia Pigmenti — IP can be devastating; some of the most serious challenges include major structural and developmental impact to the eyes and neurological system. Diagnosis is important but challenging. We must advance early diagnosis, treatments and cures so babies affected with this syndrome can live long and healthy lives. •F amily Guidance and Assistance — We will strive to provide support to our individuals and families, such as access to genetic testing, access to key clinical trials in the United States and abroad, diagnostic guidelines for Goltz patients, treatment and care protocols developed during our research conferences such as skin care recommendations for p63 patients, and much more. •W ider, Consistent Knowledge — We continue our ongoing goal to identify the many yet unknown forms of ectodermal dysplasia. Individuals and families tell us how frustrating it is to not have a diagnosis — and the importance of being able to name their condition and more confidently manage and take control of their health — and of their future. • International Research Conference — In 2021, the NFED is planning to hold its largest international conference in the United States. There, we will discuss recent discoveries, new treatment ideas, and current projects. We will explore cutting-edge research, present state-of-the-art treatments, and explore the NFED research agenda for the next 10 years.
“I dream of a world where no child is born with severe skin erosion and does not have to face the threat of ongoing skin infections and dressing changes.” — Ruth Geismar, mother of Ryan, AEC
Recognizing Our Unsung Heroes Thank you to every one of our quiet supporters, young and not so young, who are devoted to the future. These are the champions who do everything in their power to make a difference in a condition that affects themselves and those they love.
We are grateful… •F or those who selflessly participate in research studies, join clinical trials, and provide tissue samples • For every donor whose gift allows the NFED to create hope for those affected by ectodermal dysplasias • For every family who rallies their friends and families to come together (in person and virtually) to raise funds to help the NFED • For every volunteer who simply asks, “How can I help?” • For the tireless members of our Board of Directors, Scientific Advisory Council, and Patient Care Council who help guide, govern and advocate for the NFED every day.
Thank you for making hopes and dreams come true — yesterday, today, and tomorrow!
“You would need to look past my physical differences to see my true nature.” — Elizabeth Hoverman
“Life in a Raindrop,” by Elizabeth Hoverman
Will You March With Us? Say “Yes!” to the Gift of Hope Helping bring a dream to life doesn’t have to be difficult. By saying “Yes!” with your gift, you’ll empower a child with ectodermal dysplasia to say “Yes!” to life. Please walk beside us by supporting ectodermal dysplasia research. When you help us reach our $100,000 Forever Forward research goal, you will enable us to provide better treatments, hope for individuals and families, and a path toward cures.
Will you consider making someone’s hopes come true with your research gift? • $100 — Stipend for genetic testing to help us better understand the rarest, unknown syndromes • $250 — One genetic lab screen • $1,000 — One full genome panel for an individual with an unknown form of ectodermal dysplasia • $5,000 — Support for the Ectodermal Dysplasias International Registry • $10,000 — Major sponsor for the 2021 Research Conference (and join us there!) • $25,000 — Seed grant to one promising researcher (this is how we discovered a synthetic version of the missing pre-natal XLHED protein)
It’s so easy to make a dream come true: • Donate on our website at https://www.nfed.org/research/forever-forward/. • Mail in your gift in the Reply Envelope provided or to our office at the address below. • Phone us at 618-566-2020.
Thank you for being on the NFED Dream Team!
All proceeds will help the NFED fund more research projects, identify effective treatments, pursue potential cures, support clinical trials, and continue to expand the understanding of ectodermal dysplasias, including research conferences.
“We dream of a day when a treatment will be available for our boys, Tyler and Grant. We always want them to be able to see.” — Chris and DeAnn Huxman on eliminating corneal abrasions due to EEC
The National Foundation for Ectodermal Dysplasias is made up of more than 10,000 individuals, families, medical and educational professionals, and organizations determined to bring awareness, support, treatment, hope and answers to all those battling ectodermal dysplasia worldwide. OUR MISSION To empower and connect people touched by ectodermal dysplasias through education, support and research.
6 Executive Drive, Suite 2 Fairview Heights, IL 62208-1360 www.nfed.org info@nfed.org 618.566.2020