Resources

  • Families
  • Healthcare Professionals

Featured Resource

The I Wish You Knew XLHED Awareness Video

Created to increase awareness and inspire others, this video captures members of the community sharing their stories and expressing what they wish others knew about living with XLHED.

To view the presentation in full screen mode, click the expand button in the bottom right corner of the video player.

Educational Materials

XLHED e-Information Kit

Attention advocacy groups and other support organizations—Provide your members with XLHED facts and resources. Help raise awareness of XLHED—and spread the word about the Newborn XLHED Clinical Trial.

Click View page to see text that can be translated into different languages with Google Translate. Or download the full kit in English only.

What does XLHED look like?

Quick-read information on XLHED—with photos to help recognize signs and symptoms. Learn how you can get involved in the XLHED community, too.

View page

XLHED resource guide

A helpful list of resources available to you from Edimer Pharmaceuticals, including important contact information.

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Newborn XLHED Clinical Trial info

An information sheet about clinical trials and Edimer’s study of EDI200, the first XLHED drug in development.

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Community Voices

The I Wish You Knew XLHED Awareness Video

Created to increase awareness and inspire others, this video captures members of the community sharing their stories and expressing what they wish others knew about living with XLHED.

Watch it now

The XLHED Source Newsletter

Delivered to all XLHED Network members, this quarterly electronic newsletter provides breaking news, upcoming events, tips and insights from the XLHED community, and interviews with key members of the Edimer team. Click here to sign up for the XLHED Network and stay informed.

July 2013: Volume 1

September 2013: Volume 2

November 2013: Volume 3

January 2014: Volume 4

June 2014: Volume 5

September 2014: Volume 6

November 2014: Volume 7

The XLHED Webinars

The XLHED Webinar Series has been developed to help all those affected by XLHED stay informed and empowered. View previous webinars here and stay tuned for the next web event in the series!

The XLHED Clinical Trial Webinar

The XLHED Genetics Webinar

Websites

EdimerPharma.com

Edimerpharma.com is the official website of Edimer Pharmaceuticals. Here you'll find additional resources that include: Press Releases and News about Edimer and XLHED, Publications and Abstracts written by scientists and researchers about XLHED, plus XLHED Books and Articles that promote further understanding.

HavetheConvo.com

This site is especially helpful for people who suspect they may be carriers for XLHED and are thinking of starting or expanding a family. Find out about family history and inheritance, how genetic counselors can help, what you should discuss, and what you need to know. You'll find it all here.

Welcome to the HCP Resource Center

Information about XLHED for healthcare professionals

This section provides you with information to better understand XLHED and its potential impact on your patients who are affected. This information may help you during discussions with patients who have XLHED and their families.

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Overview of XLHED

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder diagnosed on the basis of:

  • Diminished or absent sweat function (hypohidrosis)
  • Few and often pointed teeth (hypodontia)
  • Fine, sparse hair (hypotrichosis)

HED can be caused be a number of mutations on different genes. It can be inherited in an autosomal dominant, autosomal recessive, or X-linked fashion. Most commonly, HED is caused by a mutation in the ectodysplasin-A (EDA) gene, which is inherited on the X-chromosome. This subset is called X-linked hypohidrotic ectodermal dysplasia, or XLHED.

Males whose single X-chromosome carries the EDA mutation are fully affected by XLHED. Females who inherit 1 nonmutated and 1 mutated X-chromosome are considered carriers and are variably affected—ranging from asymptomatic to severe symptomatology.

Additional features of HED include:

  • A reduction in mucous glands in the pharynx, larynx, trachea, and bronchi
  • Dry eye symptoms
  • Eczema
  • Asthma and dry mucous membranes in the mouth and nose

In the first years of life, individuals affected by XLHED are at risk for severe, potentially life-threatening medical complications. These complications are most often associated with the inability to sweat, leading to hyperthermia. Reduced mucous secretions predispose individuals to respiratory infections as well. Nutritional intake may be limited by salivary insufficiency and lack of dentition, potentially impacting growth and development. Through childhood, the focus of medical care for patients with XLHED often shifts to the chronic skin issues and severe hypodontia with its associated significant medical and self-esteem issues.

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EDI200: a potential XLHED treatment
on the horizon

Edimer Pharmaceuticals has developed EDI200, a recombinant ectodysplasin molecule. The rationale for the use of EDI200 in patients with XLHED is based on their lack of functional ectodysplasin-A1 (EDA-A1) which, during development, affects the formation of ectodermal structures.

Edimer has an active Investigational New Drug (IND) application for EDI200 for the treatment of XLHED. In the United States and Europe, EDI200 has Orphan Drug designation, as well as Fast Track Status designation from the US Food and Drug Administration.

Key highlights for EDI200:

  • A novel biotherapeutic for treating XLHED
  • Rationally designed EDA-A1 molecule
  • Validated biology in 2 animal models
  • Issued US and EU patents
  • Phase 1 clinical trial completed

EDI200 – A Biotherapeutic For Treating X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) contains more information about Edimer’s investigational drug.
Download the fact sheet

Do your patients qualify for the Phase 2 clinical trial?

Edimer is currently enrolling participants for the Newborn XLHED Clinical Trial of EDI200. If you have any patients affected by XLHED, please share the information with them. You may help them make informed decisions about enrolling their newborn sons in the clinical trial.

We also encourage physicians to take a full family history and refer patients to a genetic counselor (GC). Speaking with a GC can help patients understand their full family history and identify any other at-risk individuals.

Timing is key for potential clinical trial participants. Newborn boys enrolled in the clinical trial must receive the first dose of EDI200 within the first 2 weeks (14 days) of life. So, it's important that families be informed and prepared before the baby is born.

To find out whether a patient or family you follow may be eligible for the clinical trial, or for any questions, please contact the Edimer clinical trial team.

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EDI200 and clinical trial opportunities

If you are caring for or know of any families affected by XLHED, learn about the ongoing clinical trial for EDI200. If your patient is a carrier for XLHED and has a pregnancy at risk for a son affected by XLHED, the clinical trial may be an option to consider.

Clinical Trial for Newborn Boys Affected by X-linked Hypohidrotic Ectodermal Dysplasia contains information for families to help them learn more about the clinical trial.

Download the information sheet and share it with your patients.
English | French | German | Italian | Portuguese | Spanish

Additional XLHED Information

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For dentists

If you are caring for patients affected by XLHED, read more about:

  • XLHED and dentition. Tooth formation begins from the oral epithelium, an ectodermal tissue. Hypodontia and sharp, pointed teeth are common features of XLHED. Missing or pointed malformed front teeth can be the first presenting features of XLHED in infants or toddlers. While missing teeth or delayed tooth eruption have a variety of causes, the lack of tooth eruption after 12 months of age could be an indication of XLHED and should be evaluated by a dentist
  • EDI200 and dentition. In 2 animal models affected by XLHED, replacing the missing EDA-A1 with EDI200 corrects the XLHED phenotype, including restoration of near-normal permanent dentition following neonatal administration to EDA-A1–deficient dogs

Learn more and share the information with your patients.

Download the information sheet.
English | French | German | Italian | Portuguese | Spanish

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For dermatologists

If you are caring for patients affected by XLHED, read more about:

  • Recognizing XLHED features. Males with XLHED have suggestive physical findings in early infancy, although they often escape diagnosis. These facial features include:
    • Prominent forehead (frontal bossing)
    • Depressed nasal bridge (saddle nose deformity)
    • Retracted midface
    • Hypoplastic maxilla with small chin
    • Prominent lips

    Skin is typically smooth, pale, and translucent in appearance but neonates may present with diffuse, scaly, erythema that could be mistaken for a collodian membrane. Dermatoglyphics can be effaced with a lack of dermal ridges. Periorbital hyperpigmentation with fine wrinkling, which less commonly affects the perioral area, can also be seen in infancy and typically darkens with increasing age.

    In addition to hypohidrosis and hypodontia, hypotrichosis is also a classic feature of XLHED. Hair is typically light, thin, sparse, and slow growing. Eyebrows and eyelashes commonly are sparse

  • XLHED and dermatological concerns. For affected patients, skin can become xerotic, with pruritus being a common complaint. There is an increased prevalence of atopy including atopic dermatitis (AD), asthma, food allergies, and immunodeficiency. Other skin changes may include facial papules resembling milia or sebaceous hyperplasia

Learn more and share the information with your patients.

Download the information sheet.
English | French | German | Italian | Portuguese | Spanish

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For school nurses

If you are caring for school-aged children learn how you can recognize XLHED. Read more about:

  • The causes of heat intolerance in school-age children. Hypohidrotic ectodermal dysplasia (HED) is one of the causes of heat intolerance in school-age children. HED is one of a 150 types of ectodermal dysplasias. HED is a rare genetic condition characterized by hypohidrosis (diminished or absent sweat function), hypodontia (missing teeth) and misshapen teeth, and hypotrichosis (fine sparse hair).

HED is most commonly caused by a mutation in the ectodysplasin-A gene (EDA), inherited on the X-chromosome. This type of HED is called X-linked hypohydrotic ectodermal dysplasia (XLHED), also known as Christ-Siemens-Touraine syndrome.

  • XLHED and medical issues. Due to the challenges of temperature regulation, children affected by XLHED often react poorly to drastic swings in temperature. It's important that children be
    • In consistent, cool temperatures
    • Have access to air-conditioned classrooms in warm climates
    • Have access to an adequate supply of water and a cool environment during hot weather (i.e., cooling vests, air conditioning, a wet T-shirt, spray bottle of water)

Children affected by XLHED may present with a fever due to overheating rather than an illness. It's important to recognize this and help them to cool down using the various techniques mentioned above.

School nurses should be aware of other ongoing medical concerns—such as potential upper respiratory conditions and dental issues. It's important to collaborate with families to have emergency plans in place as well. Psychosocial support is also essential to help children cope with peer pressure or self-esteem issues.

Learn more and share the information with other school staff members.

Download the information sheet.

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For geneticists and
genetic counselors (GCs)

If you are counseling patients and families affected by XLHED, read more about:

  • XLHED and genetics. The information sheet covers inheritance, diagnosis and testing, and management and surveillance to help you counsel families and provide a better understanding of XLHED. This may also help you explain the importance of genetic testing to families
  • XLHED and genetic testing. Analyses of EDA mutations are readily available for prenatal diagnosis, carrier screening, and confirmatory genetic testing for XLHED. A genetic diagnosis may help families understand recurrence risk and guide them in personalizing future therapies

Learn more and share the information with your patients.

Download the information sheet.
English | French | German | Italian | Portuguese | Spanish

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Patient resources for free genetic counseling and testing

Your patients and their families may benefit from talking with a GC. Genetic counseling services are free for eligible patients. A GC can help patients and families gain a better understanding of:

  • HED and XLHED
  • Their family history and experience with HED or XLHED
  • How HED or XLHED is passed through families
  • Genetic information and test results
  • Clinical trial opportunities and potential treatment options

InformedDNA

Free genetic counseling is available for families who have or suspect they have HED or XLHED.

  • Genetic counseling is offered through a phone-based, confidential service
  • Experienced, board-certified GCs are available to talk with your patients

Learn more

The XLHED Global GeneScreen

Free services offered include:

  • Genetic testing for women who suspect they may be carriers for XLHED
  • Genetic testing for newborn boys up to 28 days old

Have questions or need further support? Contact Carrie Milliard, a certified GC who specializes in XLHED.

Learn more

Free genetic testing and counseling

The XLHED Global GeneScreen offers free genetic testing and counseling to those who qualify, including women 18 to 40 years of age who suspect they may be carriers for XLHED and newborn boys up to 28 days old.
Find out more.

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