Projects
Since its inception, the FMF & AID Global Association has been recognized for its outstanding achievements in the areas of patient advocacy, awareness, and research. In 2017, Malena Vetterli, director of FMF & AID, was chosen to represent patients with autoinflammatory diseases in the European Reference Network RITA. Participating with excellence, she was elected to serve on the RITA Executive Board, which is done on a voluntary basis and is not remunerated. The current project, Patient Journeys, will be of great benefit to both patients and health professionals. More information on ERN RITA can be found below.
The FMF & AID Global Association is a partner of ImmunAID, a large-scale European research project on autoinflammatory diseases, and is the only patient association involved. As the Head of Communications, the organization supports ImmunAID in the recruitment of patients, helps to increase awareness and understanding of autoinflammatory diseases, issues official communications to patients in several languages, and informs the autoinflammatory patient and medical communities on educational webinars developed by both organizations.
World Autoinflammatory Awareness Month
Each year, thousands of patients face the reality of living with an autoinflammatory disease. September was unanimously chosen by a group of 22 national autoinflammatory organizations from around the world, who recognize September as "World Autoinflammatory Awareness Month". During the month of September, these organizations join together in a global movement to raise awareness about autoinflammatory diseases.
There is little knowledge about what autoinflammatory diseases are, even among health care professionals, governmental authorities, and the public. It is critical that a variety of barriers are removed to expedite disease recognition, timely diagnosis, and access to treatment. Early diagnosis is crucial for improving treatment outcomes, reducing healthcare costs, and improving the quality of life for patients.
Each year, the FMF & AID Global Association and our collaborative organizations fight stigma, provide support, educate the public, and advocate for policies supporting patients with autoinflammatory diseases and their families. We continue to work tirelessly so that no patient will feel alone, lack disease-relevant information, or is left without support.
We encourage all patients around the world to raise awareness every day. September was chosen as the most effective option for hosting autoinflammatory global awareness programs, as most of Europe, North America, and the Middle East have returned from their annual summer leave.
Awareness month is a time for patients, caregivers, families, and patient organizations to join together and raise the profile of these rare and complex diseases. Working together, we can share knowledge, empower patients, and acknowledge how these diseases impact patients globally.
We also recognize International Familial Mediterranean Fever (FMF) Day, which occurs yearly on the 17th of September.
ImmunAID – Immunome Project Consortium for Autoinflammatory Disorders
ImmunAID is a large, 5-year duration European project aiming to optimize the diagnostic, classification and clinical management of rare systemic autoinflammatory diseases, as well as to deliver a method for rapid and accurate diagnosis across all the spectrum of autoinflammatory disorders. ImmunAID also aims to raise awareness on autoinflammatory diseases at all levels, as well as educate patients.
FMF & AID Global Association is an official ImmunAID partner, and the only patient organization involved.
There are 37 participating hospitals from the following 11 countries: Belgium, France, Germany, Greece, Italy, Netherlands, Slovenia, Spain, Switzerland, Turkey, and the United Kingdom.
Children and adults affected by any of the diseases below are welcome to participate in this clinical study, as well as healthy volunteers. All ImmunAID need is a bit of your time, less than 2 hours (<2h), some blood, urine and fecal samples. Note that all the data we collect and generate will remain anonymous and password protected.
These diseases are included in ImmunAID:
FMF – Pericarditis – TRAPS – Still’s disease – CAPS – Schnitzler – HIDS – Vasculitis (Kawasaki, Behçet, Takayasu) – CRMO – Inflammation of unknown origin
Objective
Systemic autoinflammatory diseases (SAID) encompass several rare disorders characterised by extensive clinical and biological inflammation. SAID are caused by the dysregulation of the innate immune system. Due to numerous and unspecific symptoms, tentative diagnosis often leads to failure/delay and inadequate treatments. ImmunAID will deliver a method for rapid and accurate diagnosis across all the spectrum of SAID, in order to improve clinical management of SAID patients.
Thanks to parallel analyses run on samples from more than 600 patients with monogenic or undiagnosed SAID collected throughout Europe, ImmunAID will generate a unique and comprehensive set of data, based on unbiased multi-omics approach (gene, transcript, protein, microbiome), and hypothesis-driven assays exploring inflammasome, inflammation resolution and immune networks. A centralised data management strategy will enable to conduct integrated analyses for diagnostic biomarker identification.
In a discovery phase, semi-supervised clustering of omics data will be combined to supervised analysis of pathway-related data to provide robust classification and strong link to clinical features/impact. The related biomarkers will further be validated externally on independent samples and cohorts. Overall, ImmunAID will disentangle the spectrum of SAID, and propose a new omics- and pathogenesis-based SAID classification associated to a clinical decision-making algorithm implementable in daily practice.
An efficient dissemination plan will target e.g. guideline-forming bodies, the medical community and patients with the help of the ERN RITA and with the objective of turning our results into clinical practice. To further support this, proactive innovation management will be implemented. To reach its ambitious goals, ImmunAID interdisciplinary consortium gathers high-level partners, including the founder of SAID concept, experts in omics science, immunology, bioinformatics, and involves clinicians and patient advocacy groups.
These diseases can be divided into two groups:
Diseases for which genetic mutations have been identified, the so-called genetically undetermined diseases for which no genetic mutation has been identified and for which the diagnosis is based on the elimination of other causes of disease.
At present, the causes and mechanisms of these diseases are poorly understood, and their diagnosis is difficult, often leading to misdiagnosis. To date, a patient with one of these diseases can receive up to 5 inappropriate or ineffective treatments before the right diagnosis is made, and the right therapy is put in place.
The objective of this study is to develop rapid and effective diagnostic methods for these diseases by the identification of biological markers present in blood, urine or stool of patient in order to develop a rapid and efficient diagnostic method.
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 779295.
Medical Needs Assistance Program
Patients with autoinflammatory diseases have to overcome many hurdles before they are heard, taken seriously, diagnosed and treated. This struggle often occurs over many years or even decades and is life impacting. FMF & AID Global Association will help these struggling patients by providing assistance such as medical consultations/appointments, various tests, travel to/from and lodging, medications, psychological therapy and support.
The aim of the assistance program is to help pre-selected and underprivileged patients, especially children, with these medical needs required to be diagnosed. We aim to provide these services in an uncomplicated and unbureaucratic manner, expediting patient diagnosis and care. Often, the treating clinicians are involved in this process, as it helps us to better assess each case.
Thanks to generous donations, we are able to provide selected support. Upon application and evaluation, the decision will be made on a case-by-case basis for those requiring financial aid. For more information, please contact us.
ERN RITA – European Reference Networks (ERNs)
Are you a patient or parent of a patient with a rare or complex Autoinflammatory, Autoimmune or Primary Immunodeficiency Disease in need of highly specialized care?
Are you a physician seeking help with diagnosis or treatment because of the rare nature of the disease?
Rare diseases are quite challenging and difficult to correctly diagnose and treat. This is why the ERNs were launched by the European Commission in 2017. ERNs stands for European Reference Networks and there are 24 different networks covering a wide range of conditions. These are virtual networks involving more than 900 highly specialized healthcare units from over 300 hospitals in 26 Member States.
The aim is to facilitate discussion on complex or rare diseases and conditions. It often requires highly specialized treatment and a concentration of knowledge and experience, which due to the complex nature of these diseases, very few doctors have.
ERN RITA is the network dealing with Rare Immunodeficiency, Autoinflammatory and Autoimmune diseases.
To help patients and clinicians, an online platform for virtual clinical consultations called CPMS (Clinical Patient Management System) was developed. Instead of the patient travelling abroad to see specialists, the information does the traveling.
Each ERN has access to the CPMS where clinicians can upload patient cases. The platform allows European specialists in the field to collaborate virtually with one another by forming panels with other clinicians. They all jointly review each case and present their diagnosis and recommendations for treatment to the treating physician. It’s then up to the treating physician to decide if he follows these recommendations or not.
Does your disease fall under:
Autoimmune?
Autoinflammatory?
PID?
CPMS
The treating physician can contact the CPMS through this link for a virtual consultation.
The information must be uploaded to the CPMS completely anonymously!
If you have any questions or concerns, please contact the CPMS helpdesk.
