Clinical Trial Information

  • About Clinical Trials
  • XLHED Clinical Trial
  • FAQs
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Why Clinical Trials Are Important

Clinical trials are important in finding out if medical treatments are safe and effective. They play an important role in getting new options to families like yours.

Before a new medical treatment, or drug, can be approved and made available through a doctor, it first must be studied in a clinical trial.

Clinical trials of new medical treatments are tightly regulated to ensure the safety of those who participate in the studies. New drugs, such as EDI200, are given to humans in clinical trials only after they have been:

  • Studied extensively in the laboratory
  • Tested in multiple animal studies
  • Approved to be used in clinical trials by regulatory agencies such as the US Food and Drug Administration (FDA) or European Medicines Agency (EMA)

Clinical trials are conducted only at approved hospitals and clinical trial sites. In the case of the Newborn XLHED Clinical Trial, this means the doctors and staff who work at the clinical trial sites are experts in XLHED. Also, they have been specially trained in the use of EDI200.

At the clinical trial site, newborn boys who participate in the clinical trial are monitored very closely and carefully—before, during, and after receiving EDI200.

Boys affected by XLHED are missing an important protein. This protein is a molecule that helps grow parts of the body like hair, teeth, and glands. EDI200 is a version of this missing protein that is created in a laboratory. The Newborn XLHED Clinical Trial’s first goal is to evaluate the safety of EDI200. The clinical trial will also study whether there is any benefit to giving EDI200 to newborn boys. Measurements of sweat, hair, and teeth will be evaluated as well.

Ramsey Johnson of Edimer speaks about Striving to Change the Future of XLHED.

Hear from the families who have participated in the Newborn XLHED Clinical Trial.

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Make the call

Deciding to participate in a clinical trial is a big choice for each family. Understanding the facts about XLHED and what the clinical trial offers may help you as you consider your decision.

We're here to help answer any questions you may have. Calling does not obligate enrollment in the clinical trial in any way—it's just to help you get more information. Contact:

Ramsey Johnson, MSM

By phone: +1 617-758-4300

By e-mail: ramsey@edimerpharma.com

Or, send us your contact information and a member of our team will reach out to you.

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Ways to get involved

Understand your family history

Knowing which type of HED or XLHED that runs in your family and what it means is a crucial first step. Talking to a genetic counselor can help.

Genetic counselors are medical professionals who are trained in genetics—they can discuss genetic and medical information with families. If you suspect XLHED is part of your family’s medical history, you may be eligible for confidential and free telephone genetic counseling.

Learn more about genetic counseling services from InformedDNA.

A simple blood test can determine whether you are a carrier for XLHED. This may be particularly important to women who are pregnant or considering expanding their family.

Find out if you qualify for free genetic testing through the XLHED Global GeneScreen.

Clinical trial opportunities

Your family history may also give you the information to consider taking part in the Newborn XLHED Clinical Trial of EDI200. Contact us if you are a woman who:

  • Has had a genetic test confirming you are a carrier for XLHED*
  • Has male relatives affected by XLHED and you suspect you may be a carrier
  • Are pregnant or thinking of becoming pregnant in the near future

*The difference between HED and XLHED can be difficult for families to recognize or understand. Genetics is complicated—that’s why we’re here to help. Find out how your family can get free genetic counseling and genetic testing services.

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Spread the word

It is our shared goal to make sure that every family affected by XLHED knows about our hope for a different future for boys affected by XLHED.

We need your help to make sure that families are aware of the Newborn XLHED Clinical Trial. Newborn boys must be enrolled into the clinical trial within 2 weeks after they are born. Now’s the time to spread the word and encourage those who might consider participating.

Here's how you may help the community shape the future of XLHED:

There are currently two XLHED clinical studies:
1. The Newborn XLHED Clinical Trial of EDI200
2. The XLHED Natural History Study

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An Update on the Newborn XLHED Clinical Trial of EDI200

In 2013, Edimer announced the enrollment and completed dosing of the first baby in the Newborn XLHED Clinical Trial of EDI200. This represents a huge milestone for the XLHED community; it’s a big step toward improving the lives of boys living with XLHED. Since then, more newborn boys have been enrolled in the clinical trial and received EDI200—and the clinical trial is still open and accepting new participants.

Neil Kirby, President and CEO of Edimer, expressed: "We'd like everyone in the XLHED community to know that we are still looking for more participants. We encourage you to help us spread the word. Women with a family history of XLHED who are pregnant, or planning to expand their families, can find out if they are eligible.

"We are excited about the progress of the clinical trial. However, we can't share results until the clinical trial is completed, according to regulatory guidelines. We continue with our commitment to this important scientific effort to help families affected by XLHED. We are forever grateful and impressed by the families who have joined the effort."

For all the latest medical news about XLHED and clinical studies, join the XLHED Network. Join now.

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What is EDI200?

Ectodysplasin–A1 (EDA-A1) is a protein that occurs naturally in the body. It has a very important job as a baby first grows and develops. This protein starts the growth of hair, teeth, skin, as well as sweat and mucous glands. In people who are affected by XLHED, EDA-A1 is missing due to a change in the EDA gene. Without EDA-A1, boys develop symptoms of XLHED—such as sparse hair, missing and pointed teeth, and a reduced number of sweat and mucous glands.

EDI200 is a synthetic version of EDA-A1 developed by Edimer Pharmaceuticals, Inc. Studies have shown that use of EDI200 may lead to more normal development of hair, teeth, skin, and sweat glands. For example, EDI200 given to newborn dogs who have XLHED can restore the growth of their teeth, skin structures, and mucous glands.

A clinical study of EDI200 for newborns affected by XLHED started in 2013. The goal of the study is to impact quality of life and health of babies by replacing the missing EDA-A1 protein with EDI200 in babies affected by XLHED while they are still growing and developing.

EDI200 will only be available to newborns in this trial. If you are pregnant and may be a carrier for XLHED, contact Edimer or read clinical trial information at clinicaltrials.gov.

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What to Expect in the Newborn XLHED Clinical Trial of EDI200

If you're thinking about participating in the clinical trial, learn about what you can expect with the help of this quick visual guide. Click on the image to view the full infographic.

Hear from the families who have participated in the Newborn XLHED Clinical Trial

Parents share their hopes for the future in Advice to Others

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The XLHED Natural History Study

Edimer recently opened enrollment for a clinical study called The XLHED Natural History Study.

A natural history study helps doctors and researchers understand how XLHED may progress in boys who receive standard medical care for the condition. The data from the natural history study will be compared with the data from the babies who received EDI200.

In The XLHED Natural History Study, participants will have the same series of observations and measurements as the babies in the Newborn XLHED Clinical Trial—but they will not receive the study drug EDI200.

This helps researchers understand the clinical symptoms of XLHED under standard of care.

Who may participate?

This study is open to boys and girls, aged 36 months and younger, who:

  • Have been diagnosed with XLHED based on genetic testing
  • Have not received an investigational study drug such as EDI200

The clinical study sites for the XLHED Natural History Study include:

  • San Francisco, CA, USA
  • St. Louis, MO, USA
  • Washington, DC, USA
  • Cardiff, UK
  • Erlangen, Germany
  • Paris, France
  • Milan, Italy

Learn more about the XLHED Natural History Study

Or contact Ramsey Johnson at Edimer
E-mail ramsey@edimerpharma.com or call 617-758-4300

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Help Spread the Word

It's our shared goal to make sure every family affected by XLHED knows that a different future may be possible for boys affected by XLHED.

Now's the time to spread the word and help families learn about the Newborn XLHED Clinical Trial. Be a part of shaping the future of XLHED. You can:

Frequently Asked Questions

Q. What are clinical trials?

A. Clinical trials are an important part of developing new medical treatments. They help doctors and scientists determine if new medical treatments are safe, effective, and prescribed at the correct dosage.

Q. What is the purpose of the Newborn XLHED Clinical Trial?

A. The Newborn XLHED Clinical Trial is a Phase 2 clinical trial. The study drug being evaluated is called EDI200. Clinical studies performed in Phase 2 determine how well the study drug, EDI200, meets the goals for safety, effectiveness, and optimal dosing to achieve the best results.

If approved, EDI200 would be the first drug to treat some of the symptoms of XLHED.

Q. Have other studies been done on EDI200?

A. Before giving EDI200 to newborn babies, many other studies had been done. EDI200 has been studied in animals affected by XLHED (mice and dogs). It has also been studied in adults affected by XLHED in a Phase 1 clinical trial.

XLHED signs and symptoms in dogs and humans are almost identical. EDI200 was given to newborn puppies. This study showed that EDI200 greatly enhanced the development of hair, teeth, skin, and some glandular structures. EDI200 also led to increased general health in these dogs, including fewer respiratory tract infections. The animal studies showed that providing EDI200 early in life could result in a lifelong benefit for those affected by XLHED.

In the Phase 1 clinical trial, EDI200 was successfully studied in adults affected by XLHED to show that the drug is safe to use in people.

These studies provided the information needed to get approval for the Phase 2 clinical trial: studying EDI200 in newborns affected by XLHED.

Q. Who may participate in the clinical trial?

A. Baby boys between 2 and 14 days old, who have had a genetic test to confirm the diagnosis of XLHED, are eligible to participate.

Since newborn boys must receive EDI200 so soon after birth (within the first 2 weeks—14 days—after birth), it is important that pregnant women who know or suspect that they are carriers for XLHED get in contact before their babies are born.

Q. I am pregnant, but how will I know if my child can participate in the clinical trial?

A. A simple blood test will confirm whether you are a carrier for XLHED—and determine your chances of having a child with XLHED. The XLHED Global GeneScreen is available to help coordinate and cover the cost of this blood test.

If the genetic test shows that you are a carrier for XLHED and you are pregnant with a boy, the XLHED Global GeneScreen can also help to coordinate testing for your son soon after he is born.

Q. Will I have to pay for anything if I participate in the clinical trial?

A. No. If you decide to enroll your newborn son in the clinical trial, Edimer will pay for travel to and from the clinical trial site, as well as lodging and living expenses during your stay.

Q. How will EDI200 be given to my baby during the clinical trial?

A. Newborn boys enrolled in the clinical trial will receive the first dose of EDI200 between 2 to 14 days after birth. EDI200 will be given 5 times over 2½ weeks, through intravenous (IV) infusion.

There will be 2 groups enrolled in the clinical trial, with 3 to 5 newborns per group. Each group will receive a slightly different dose of EDI200 to determine the most effective dose.

Q. What if I decide I don't want to participate?

A. Participation in a clinical trial is always voluntary. Choosing not to participate will not affect the current medical care you are receiving or may receive in the future. It's also important to know that if you decide to participate in a clinical trial, you may withdraw at any time—and for any reason.

You may call Edimer with any questions you may have. Calling does not obligate enrollment in the clinical trial in any way.

Contact:

Ramsey Johnson, MSM

By phone: +1 617-758-4300

By e-mail: ramsey@edimerpharma.com

Or, send us your contact information and a member of our team will reach out to you.

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Get free genetic testing

Find out if you are a carrier for XLHED with FREE genetic testing. All you have to do is join the XLHED Network. You will be sent an e-mail if you are a candidate for testing. Please note that the genetic analysis is free, but you will be responsible for other costs related to the testing. These costs may include, for example, the doctor's office visit and having your blood taken. It's another important reason for you to join the XLHED Network today.

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