Together, We Can Advance Ectodermal Dysplasias Research
The Ectodermal Dysplasias Registry is sponsored by the National Foundation for Ectodermal Dysplasias (NFED) and built in partnership with the National Organization for Rare Disorders (NORD®).
Our goal is to help people affected by ectodermal dysplasias, families, doctors, and researchers work together to deepen understanding, improve care, find new treatments, and ultimately identify cures or preventions.
Because ectodermal dysplasias are rare and complex, we still have a lot to learn. The Registry helps fill in those gaps by showing how the condition changes over time and how it affects people’s lives.
By participating in the Ectodermal Dysplasias Registry, your story and medical history can truly make a difference for future generations.
Who Can Participate?
All individuals who are affected by ectodermal dysplasias (or their Legal Authorized Representatives) and live in the United States or Canada can participate in the research study.
What is a Patient Registry?
A patient registry is an online, secure database that collects health information from people who share the same condition. It includes details about your experiences living with ectodermal dysplasia, your genetic information, and your medical history. Researchers use this information to better understand how ectodermal dysplasia changes over time, find people for clinical trials and studies, and make sure your voice is heard in research.
Why is it Important?
The information collected is important for:
- Connecting the ectodermal dysplasias community, providing support and knowledge for affected individuals and their loved ones.
- Accelerating the development of new therapies
- Improving clinical care and treatment guidelines
- Measuring prognosis and outcomes, as well as quality of life.
- Connecting participants with clinical trials, research studies and surveys.
- Informing research priorities to develop better treatments and ultimately cures or preventions
Why Should You Join?
When you join the Registry, you become part of a community created to energize, inform, engage and support ectodermal dysplasias research. We come together to advance knowledge and help find better treatments, more quickly.
Patient Empowerment
The Ectodermal Dysplasias Registry is powerful because it is driven by patients who own their data and can choose to share it.
Pool Data and Resources
Participation will contribute to the centralization of data and resources which will help advance research efforts.
Impact Patient Outcomes
Participation will help researchers and clinicians better understand ectodermal dysplasias and its burden, leading to improved outcomes and quality of life for affected individuals.
Research Collaborations
Participation will support research collaborations to improve treatments and patient care.
Improve Diagnosis
Participating in the Registry may help identify which type of ectodermal dysplasia affects you, if unknown.
Collaborating with ClinGen
The NFED works with the Clinical Genome Resource (ClinGen) Patient Data Sharing Program to give registry participants the choice to share their de-identified and pseudonymized genetic and health data. ClinGen is a National Institutes of Health (NIH)-funded project aiming to define the impact of genes and genetic changes on health.
ClinGen helps individuals who have had genetic testing securely share their genetic test results and health history with databases like ClinVar. ClinGen works with individuals who have had testing through its own registry (GenomeConnect) and by working with other disease-specific registries such as the Ectodermal Dysplasias Registry.
By sharing your genetic and health data, you can:
- Help increase our understanding of genetics and health.
- Help accelerate research for future generations.
- Have the option to receive genetic result updates. This can be particularly helpful for individuals with uncertain (VUS) results who don’t know what type of ectodermal dysplasia affects them.
- Learn about other relevant research opportunities.
I already participated in the NFED’s old registry. Is this different?
Yes. The new Ectodermal Dysplasias Registry is different from the old one, and your information can’t be moved over. You will need to join this Registry as a new participant. The new Registry uses the IAMRARE platform, which has better tools to collect information and help researchers learn more about your experience.
How to Participate in the Ectodermal Dysplasias Registry
Click here to register on the Ectodermal Dysplasias Registry
Provide consent for participating in the Registry as a patient, Legally Authorized Representative (LAR) or Designated Representative.
Complete the Registry surveys, which consists of questions about a person’s experience with ectodermal dysplasia.
Update the Registry surveys when notified to ensure quality data, which will continue to help advance ectodermal dysplasias research.
Look at the data analysis reports to see how your participation helps advance ectodermal dysplasias research.
The Ectodermal Dysplasias Registry is on the IAMRARE platform, which is free to download, gives you a more convenient way to stay involved with our Registry, wherever you are. With the app, you can manage your participation, complete surveys, receive updates, and more — all from your phone or tablet. Download the IAMRARE mobile app today from the Apple App Store and Google Play.
Ectodermal Dysplasias Registry FAQs
How long will it take participants to complete the Registry surveys?
There are 20 short Registry surveys grouped in topics. Each survey varies in the amount of time it will take a participant to complete. To track the course of ectodermal dysplasia, participants will be asked to update the surveys at regular intervals.
We Thank Our Sponsors
The NFED received partial funding for the Ectodermal Dysplasias Registry from Oracle and NORD.
Ectodermal Dysplasias Registry
If you have any questions, please contact our Registry administrator at registry@nfed.org. We’ll be happy to help you get started.