Thank you for your interest in the APS Type 1 (APECED) Registry. This registry will help support research in Autoimmune Polyglandular Syndrome Type 1. This rare syndrome is also known as Autoimmune Polyendocrinopathy Syndrome Type 1 and APECED (Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy).
In collaboration with the National Organization for Rare Disorders (NORD), the APS Type 1 Foundation Inc. created this registry to improve the lives of individuals living with APS Type 1 and to further our missions of finding new treatments and ultimately a cure. Given the rarity of APS Type 1, it is critically important that we all work together to help the research community better understand APS Type 1 and its progression over time.
What is a Patient Registry?
A patient registry is an online data system that systematically collects, stores, and retrieves patient data for analysis in research studies. The APS Type 1 (APECED) Registry serves to:
What types of data will be collected in the APS Type 1 (APECED) Registry? Is the data secure?
The APS Type 1 (APECED) Registry collects data on the following topics:
The APS Type 1 (APECED) Registry follows strict government guidelines to assure patient information is protected. The registry platform is served over HTTPS, providing encryption of traffic to prevent eavesdropping and man-in-the-middle attacks. Communication between the registry platform application server and the database are also encrypted.
Who is eligible to participate in the APS Type 1 (APECED) Registry?
o Genetic diagnosis of APS Type 1 via identification of biallelic AIRE mutations
o Clinical diagnosis of disease defining characteristics (at least 2 of 3 of the following):
o Having a clinical diagnosis of Hypoparathyroidism (based on decreased plasma calcium, elevated plasma phosphate, and decreased or absent plasma intact parathyroid hormone) diagnosed at any age.
o Having a clinical diagnosis of any one or more of the following disease defining characteristics first arising before the age of 20:
o Having a first degree family member (parent, child, sibling) with a confirmed diagnosis of APS Type 1.
Please be sure to carefully read the informed consent document before agreeing to participate in the registry. The informed consent document contains detailed information on how registry data will be collected, stored, and used. Please read through this information and contact us with any questions. If you are comfortable with all of the terms of the consent document, you can electronically sign it and proceed to set up your account and answer the registry questions. If you've already signed the consent document and set up your account, you can log in directly.
Thank you for helping us improve the lives of individuals with APS Type 1. For additional information or inquiries, please contact us at: firstname.lastname@example.org.