We are thrilled to announce the official launch of the APS Type 1 (APECED) Registry in celebration of World Rare Disease Day 2019.
The APS Type 1 (APECED) Registry is a secure database that provides a way to collect information from many different people with APS Type 1 and to update information over time as conditions and experiences change. Patients or their legally authorized representatives can enter important patient data into the database by completing different online surveys. These surveys can be completed at your own pace. You can start and stop by saving your progress. The surveys are intended to gather information about many different aspects of APS Type 1, including details about diagnosis, prognosis, treatments, which disorders the patient has and when they were acquired, medications, hospitalizations and quality of life. There are some general surveys as well that will collect profile and socio-demographic information. As the registry develops, we plan to add additional surveys to meet the needs of our research community and to respond to the data collected. All information will remain private and will not be linked to your name or any other identifiers. Researchers will have access only to de-identified data after review and approval by our registry advisory committee.
We hope that information collected in this registry will help researchers better understand APS Type 1 and be able to better diagnose and treat the conditions caused by APS Type 1.
Who Can Participate In The Registry?
Patients of all ages with a confirmed diagnosis of APS Type 1 are eligible for inclusion in the registry. APS Type 1 is defined as:
- Genetic diagnosis of APS Type 1 via identification of biallelic AIRE mutations
- Clinical diagnosis of disease defining characteristics (at least 2 of 3 of the following):
- Chronic Mucocutaneous Candidiasis (CMC) (based on recurrent episodes of Candida infections of the mucous membranes, skin, and/or nails)
- Hypoparathyroidism (based on decreased plasma calcium, elevated plasma phosphate, and decreased or absent plasma intact parathyroid hormone)
- Addison’s Disease (adrenal insufficiency) (based on decreased plasma cortisol concentrations upon ACTH stimulation)
Patients of all ages with a suspected diagnosis of APS Type 1 are eligible for inclusion. For purposes of this registry, suspicion of an APS Type 1 diagnosis is on the basis of:
- 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.
- Chronic Mucocutaneous Candidiasis (CMC)
- Addison’s Disease (adrenal insufficiency)
- Enamel Hypoplasia (tooth enamel dystrophy or nail dysplasia)
- Pneumonitis (lung inflammation)
- Autoimmune Hepatitis (liver inflammation)
- Keratoconjunctivitis (eye inflammation)
- Severe Fat MalabsorptionHaving a clinical diagnosis of any one or more of the following disease defining characteristics first arising before the age of 20:
- Having a first-degree family member (parent, child, sibling) with a confirmed diagnosis of APS Type 1.
Why Is The Registry Important?
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.
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 be for patients and families. We want to help support your journey. Take this journey with you as much as we can and support you through it. 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 news and resources. If you have ideas for information that you would like to have covered there, please contact us at firstname.lastname@example.org.