Research News

For a comprehensive update of NFED-sponsored ectodermal dysplasias research, download the Winter 2010 issue of Connecting Lives.

EDI200:  Replacement Therapy Gives Hope for Successful Treatment of HED Symptoms

Future generations of families affected by X-linked hypohidrotic ectodermal dysplasia (XLHED) may have an option of a treatment that would eliminate the symptoms of the condition. The National Foundation for Ectodermal Dysplasia is thrilled to be working with Edimer Pharmaceuticals, Inc. whose vision is to deliver a significant and durable improvement in the health and quality of life to future generations affected by the rare genetic disorder, XLHED.  MORE

Update From The XLHED Dog World!
Margret Casal, D.V.M., Ph.D.
University of Pennsylvania

In previous treatment trials in the ectodermal dysplasia (XLHED) dogs, we had shown that a one-time treatment at birth with recombinant EDA (Fc:EDA) resulted in restoration of the adult teeth and some improvement of the clinical signs.  However, the majority of clinical problems associated with XLHED in humans is caused by the lack of eccrine, sweat, bronchial, and lacrimal glands resulting in hyperthermia, frequent pneumonia and dry-eye.  Therefore, the recovery of these glands is the primary goal of treatment.  We had proposed to use higher doses of Fc:EDA in affected dogs and were subsequently able to show that dogs thus treated had correction of dentition, normal respiratory function, normal tear production, and the ability to sweat.   We were also able to show that treatment instituted earlier in life resulted in better correction.  MORE

Treatment of XLHED – Where We Are

APO200 is a recombinant protein initially designed at the University of Lausanne, Switzerland. It was then further developed at Apoxis as a drug candidate for the treatment of X–Linked Hypohidrotic Ectodermal Dysplasia (XLHED)…more

A One–Time Treatment Leads to a Full Set of Teeth in Dogs With Ectodermal Dysplasia!

As many friends of the NFED know from Dr. Gaide’s and Dr. Schneider’s studies that were funded by the NFED, recombinant ectodysplasin A (Fc:EDA1) was injected pre- and postnatally to mice with the same form of ectodermal dysplasia (XHLED) as is found in humans and dogs. The protein was designed such that when injected IV into pregnant mouse mothers, the immunoglobulin portion would allow for transfer across the placenta into the affected fetus. Because there is virtually no intra uterine transfer of immunoglobulins in the dog, we chose to treat the XLHED dogs postnatally…more

Clinical Observations of Dental Conditions at the Annual Family Conference

During the annual Family Conferences, families have been involved in two research projects during the Friday research day. The first is an ongoing assessment of the dental conditions that the children or young adults present with. This is a time when parent often come with multiple questions and time is spent discussing what the current and future possibilities of care can be. The dental exams are typically visual observations of conditions and many times, we try to have dental students or residents from near by dental schools attend these consultation sessions…more

Oral Quality of Life (QOL) Agreement between Caregivers and Ectodermal Dysplasia Affected Children

A second project that we are interested in is determining the impact, if any, of the dental condition(s) on the “Quality of Life” of individuals affected by ED. This is a study that has been run by Ms. Cindy Asmussen (University of Iowa) since 2003. The purpose of this study is to evaluate the agreement between a parent’s perception of the child’s “quality of life “ (QOL) and the affected children and young adults self reported QOL determined by the child completing a survey designed for their level of understanding…more

Update on Ectodermal Dysplasia Face Study

At the NFED Family Conference held in St Louis in 2007, Peter Hammond’s research assistant, Matt DiFranco, and Eastman Dental Institute prosthodontist Neil MacBeth took photographs with a special 3D camera from University College London (UCL). In all, 37 families volunteered to have 3D face images recorded, primarily affected children and adults but also siblings and parents so that family likeness could be captured. Previously, photographs had been taken in London of UK families with individuals who were also affected by ED…more

Swedish Oral Disability Center Focusing on Dental Symptoms in Ectodermal Dysplasia

The National Oral Disability Centre for rare disorders in Jönköping, Sweden, was established in 1999 and is one out of six centres in Scandinavia focusing on dental symptoms in rare disorders. In our center at the Institute for Postgraduate Dental Education (www.lj.se/oi), which is our clinical and research affiliation, we have worked with different projects on diagnosis and treatment in ED for a long time. In 1998, we arranged a consensus conference on ED where a care program was worked out and in the year 2000, we arranged the first European conference on ED for the dental profession…more

Interactions of Ectodysplasin and Wnt in Hair Follicle Development

Hypohidrotic ectodermal dysplasia is a congenital syndrome characterized by defective hair growth, missing and abnormally shaped teeth, and absence of sweat glands. There is a set of genes whose products normally interact with each other to regulate the development of hair follicles, teeth and sweat glands during gestation. When one of these genes and its encoded protein is defective, abnormal formation of these organs occurs…more

Does the Difficulty in Sweating and Hair Loss in Ectodermal Dysplasia Affect Quality of Life, Family Life, and the Economic Health of Patients and Families?

Overall, very little is known about the burden of cutaneous (skin) disease by patients and families with ED. Our research seeks to answer this question work by to exploring the quality of life, family impact, and economic impact in ED patients and families as it relates to difficulties in sweating (hypohidrosis) and hair loss (alopecia), nail changes, and frequent skin and nail infections…more

Tricho–Dento;–Osseus (TDO) Syndrome: Developing a Mouse Model

The ectodermal dysplasias a large group of diseases, where more than 170 different pathological clinical conditions have been defined, all sharing in common anomalies of the hair, teeth, and nails. The anomalies affecting the epidermis and epidermal derivatives are extremely variable and clinical overlap is present among the majority of the ectodermal dysplasias. A recent clinical-genetic classification has been proposed where a defect in developmental regulation can be recognized on the basis of an identified causative gene, it’s putative or proven function and pattern of expression. A causative gene in this category that has been associated with Tricho-Dento-Osseus (TDO) syndrome is the DLX3 homeobox transcription regulator…more

Generating A Mouse Model For AEC Syndrome

Recently, scientists found that changes in a specific gene, called p63, cause skin fragility in AEC patients. They found that the p63 gene plays an important role in the skin, because it acts as an “on and off switch” for other genes. The p63 gene produces six different proteins in varying amounts. In AEC patients, two of these six proteins are changed, and do not work as they should. The two mutated proteins are called TAp63Δ and ΔNp63Δ. In our previous studies, we found that TAp63Δ is active during very early stages of epidermal development, long before birth, whereas ΔNp63Δ is active during later stages of epidermal development shortly before birth, and also after birth. Since skin erosions in AEC patients are present after birth, we believe that mutant ΔNp63Δ is responsible for skin fragility in AEC patients…more

Characterization of the Molecular Defects in a Mouse Model for the AEC Syndrome

AEC syndrome is caused by mutations in the p63 gene, a crucial regulator of skin development. Our recent studies suggest that alterations in the skin mechanical resistance due to altered p63 function, may be a primary cause of skin erosions in AEC patients…more

Getting Under The Skin of p63

In our laboratory, we try to resolve the exact genetic p63 defect in patients with an ectodermal dysplasia syndrome and we try to gain more insight into the mechanisms by which these mutations cause disease. The identification of new p63 mutations sometimes provides unexpected results and new insights into p63 function…more

Gene for Goltz Syndrome Identified

Researchers at Baylor College of Medicine (BCM) in Houston report that a mutation in a gene called PORCN results in Goltz syndrome, also called Focal Dermal Hypoplasia. PORCN is involved in the secretion of proteins necessary for proper signaling within the cell that leads to differentiation of tissues into organs and other body parts. The discovery is significant in that it should enable carrier testing and pre-natal diagnosis for families affected by that syndrome. It’s also an important step in ultimately finding a cure…more

Height and Weight Deficits Characterize Children with Ectodermal Dysplasia Syndromes

Dr. Motil’s group of researchers are the first to document weight deficits in early childhood that persist through adolescence in children affected by ectodermal dysplasia syndromes and suggest that differences in linear growth may exist among these rare genetic disorders. Their paper, titled, Growth and Nutritional Status of Children with Ectodermal Dysplasias was recently published in Pediatrics…more

Psychoeducational Characteristics of Children with Hypohydrotic Ectodermal Dysplasia

This study evaluated 45 children with hypohydrotic ectodermal dysplasia (HED) and 59 comparison control children who were matched for gender, age and socioeconomic status. The children affected by HED were recruited from two consecutive NFED Family Conferences. The children were administered tests of intelligence and educational achievement, as well as assessment of adaptive behavior skills and assessment of attention, hyperactivity and oppositional-defiant behavior…more