National Foundation for Ectodermal Dysplasias

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ectodermal dysplasias through education, support, and research.

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Adults Affected by X-Linked HED Needed for Edimer Study

The purpose of this study is to look at the safety of a new drug (EDI200).  The study drug is investigational, which means that the Food and Drug Administration (FDA) has not approved the drug.

This study is now recruiting XLHED-affected males and carrier females.  Subjects age 18-40 years and between approximately 100 and 200 lbs are eligible to participate.  Participants must have either genetic testing confirmation of a mutation consistent with XLHED or clinical symptoms/family history consistent with XLHED (e.g. reduced sweating, missing or misshapen teeth, thinning or absent hair).

As part of your participation in this study you will get five doses of EDI200.  In addition, you will have blood taken, an ECG performed, photographs taken, hair analyzed with a special camera, lung function measured, sweat ducts counted, sweat and saliva collected, tears analyzed and skin biopsies.

This study is being conducted in Cincinnati, OH and San Francisco, CA but you do not need to live in either of these two cities to participate. If you choose to participate in this study you would need to stay in the vicinity of one of the two clinical research sites for almost three weeks.  During that time you would need to stay inside the clinical research unit for 24 hours following each dose of EDI200.  You would also need to be available for frequent visits to the clinical research unit even on days when you are not receiving EDI200. Once this three-week period is over you will need to come back to the clinical research site for two additional visits.

The sponsor of this clinical study, Edimer Pharmaceuticals, will pay for your travel, meals and accommodations.  You will also receive $100 per day for every day that you are required to stay in or near the study center.  You will receive your compensation in two payments, approximately $1500 after you have completed the treatment portion of the study on study day 17 and approximately $1500 after you have completed the follow-up portion of the study on study day 42 or 44.

Edimer Pharmaceuticals is a privately held biotechnology company based in Cambridge, Massachusetts dedicated to delivering a significant and durable improvement in the health and quality of life to future generations affected by XLHED.

If you or one of your family members is interested in learning more about participation in this study or learning more about Edimer, EDI200 or XLHED please contact:

Ramsey Johnson
Director, Clinical Operations
Edimer Pharmaceuticals, Inc.
One Broadway, 8th Floor
Cambridge MA 02118
(617) 758-4305
Email Ramsey Johnson
 
Click here for additional information on this clinical study.

 

Survey - Parenting a Child Affected by Ectodermal Dysplasias

Lem Pelentsov is a researcher at the University of South Australia who is looking at ways to provide support for parents caring for a child diagnosed with ectodermal dysplasia. He developed this survey through collaboration with parents of children with ectodermal dysplasias.  

Take survey.

 

40 Women Strong Program

Edimer Pharmaceuticals' XLHED Genotyping Initiative for Women

 

Edimer Pharmaceuticals is pleased to announce the launch of the 40 Women Strong: an XLHED Genotyping Initiative for Women. This initiative is offering 40 women the opportunity to learn whether or not they are a carrier of XLHED by receiving genetic testing at no cost.*  

This may be particularly important for women who are considering starting a family or expanding their current family.  Participation in this program is entirely voluntary and you can stop participating at any time.
 
1. To learn more about the genotyping initiative.  
 
2. To get started click the green button, “Click Here to Find Out if You Qualify.” You must be a member of the XLHED Network to participate, so you will need to fill out the confidential membership questionnaire through this button.
 
3. Based on the information you provide, you’ll be told whether or not you are eligible to participate in the genotyping initiative.
 
4. If you qualify and choose to participate you will receive a welcome kit via e-mail providing instructions on how to participate.
 
To participate, women must be 18–35 years old and a member of the XLHED Network.  If you are already a member, simply retake the membership questionnaire to find out if you meet the eligibility criteria for this program.
 
If you have any questions about this program please email Carrie Milliard, CGC.  Carrie is a certified genetic counselor from Maine Medical Center who works with Edimer on a consultant basis.
 
Thank you for your interest in this program.  Your contribution to the community is appreciated.  Together with the contributions of the other participants, you have the ability to potentially help future generations affected by XLHED.
 
Sincerely,
 
Ramsey Johnson
Director, Clinical Operations
Edimer Pharmaceuticals
 
*The genetic analysis is conducted at no cost; however, participants are responsible for associated costs such as doctor’s office visits, the blood draw, etc.
 

Gene for Goltz Syndrome Identified

Dr. Van den Veyver and her research team continue to enroll families with Goltz syndrome for their studies. If you or a family member are affected by Goltz syndrome and would like to participate in Dr. Van den Vyver's study, contact Mary Fete at the NFED.

The future research in Dr. Van den Veyver's lab will focus on understanding the normal function of PORCN and how its abnormal function leads to the features of Goltz syndrome. This will be done by analyzing the mouse model for Goltz syndrome that is being generated. The researchers will also study the gene's function and the effect of mutations in cell culture experiments. Now that the gene is known, it will also be important to continue to study the individuals who have Goltz syndrome to better understand how specific changes in the gene may relate to specific features.

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The National Foundation for Ectodermal Dysplasias (NFED) is a qualified 501(c)(3) nonprofit organization.
The EIN is 37-1112496. The NFED is registered in all states where applicable.