The APS Type 1 (APECED) Registry is a critical tool for our patient and family community to play a direct part in advancing research, awareness and education. By increasing the available information on the experience of people with APS Type 1 throughout their lives, we can increase interest in APS Type 1 research and support our scientific community.

Goals

Patient registries have been shown to help speed the development of better treatments and ultimately improve patient outcomes. The APS Type 1 (APECED) Registry will:

  • Provide a convenient online platform for patients or their legally authorized representatives to report cases of APS Type 1.
  • Conduct a prospectively-planned natural history study that will result in the most comprehensive understanding of APS Type 1 and its progression over time.
  • Characterize and describe the APS Type 1 population as a whole.
  • Assist the APS Type 1 community with the development of recommendations for standards of care.
  • Assist researchers studying the pathophysiology of APS Type 1.
  • Support the design of clinical trials that explore new APS Type 1 treatments.

Get Connected

It is our hope that the registry will help build our community and allow us to make better connections with each other. We know what a hard journey APS Type 1 can be for patients and families. We want to help support your journey.

If you are not in touch with other APS Type 1 families and would like to be, we can help you get connected. If you are looking for a physician in your local area who is knowledgeable about APS Type 1, we can try to assist. 

Please check back often as we will update the News page with study information and other relevant APS Type 1 updates and resources. If you have ideas for information that you would like to have covered there, please contact us at registry@apstype1.org.

From the Community

We understand how difficult it can be to find time in your busy and stressful days to help us. We thought you’d like to hear directly from some of our community members about their experiences with the registry.

Why did you join the APS Type 1 (APECED) Registry?

To ultimately help our daughter.

Were the surveys difficult to complete?

No, they were very easy to navigate!

About how long did it take you to complete the surveys?

One hour

Why do you think it’s important for others to enroll in the APS Type 1 (APECED) Registry?

So the doctors can get information. When our doctor was researching to give Molly Rituximab a second, third and fourth time, she had a difficult time getting information of other people using the medication.

What challenges do you and your daughter face in living with APS Type 1?  And, how can researchers help improve this?

We consider ourselves extremely blessed to not really face any major challenges!

Any other thoughts you would like to share?

This is probably just a “me thing” but I was the one answering the surveys.  I am not a doctor and perhaps remembered things incorrectly or my knowledge isn’t accurate. I look forward to the next evolution of the registry where our data can be validated and confirmed with doctor input data.

Why did you join the APS Type 1 (APECED) Registry?

To help spread awareness of APS Type 1, and to gain insight into others’ challenges and treatment strategies.

Were the surveys difficult to complete?

Not at all.

About how long did it take you to complete the surveys?

45 minutes

Why do you think it’s important for others to enroll in the APS Type 1 (APECED) Registry?

To share experiences, share treatment strategies, to assist doctors and researchers in developing treatments and a cure for APS Type 1.

What challenges do you and your son face in living with APS Type 1?  And, how can researchers help improve this?

The rarity of APS Type 1 is a struggle when dealing with doctors and hospitals due to the majority of them never even hearing of APS Type 1. Also, many doctors are unaware on how to manage medication dosages to the complexity of APS Type 1.

Any other thoughts you would like to share?

The NIH study being conducted along with the APS Type 1 Foundation has been a true blessing.  We are extremely fortunate to be a part of both of them.  Not only have the APS Type 1 Foundation and the NIH taught us more than we could have ever imagined, but they have been therapeutic for our entire family. Knowing that we are not alone in this fight has motivated us to be the best parents we can be for Evan.

Share Your Story

If you’d like to share your thoughts and provide your own testimonial, we’d love to hear from you. Please email us at registry@apstype1.org.