​Projetos em andamento do JIR

This project focuses on patients with familial Mediterranean fever (FMF), a rare genetic disease that causes repeated episodes of fever and inflammation.
The standard treatment for FMF is a medication called colchicine, which helps prevent attacks and complications. However, in some patients, colchicine alone is not enough to control the disease: this situation is known as colchicine resistance.
Today, different doctors and centers may use different criteria to decide when colchicine is no longer effective and when additional treatments (such as biologic drugs) are needed. This can lead to unequal access to therapies and inconsistent care for patients across countries and healthcare systems.

The aim of this project is to compare the information reported by physicians through the JIR CliPS questionnaires with the real-world clinical data recorded in three large international registries. By doing so, we seek to understand how colchicine resistance in FMF is identified and managed in everyday practice, and to assess the consistency and completeness of these different data sources regarding disease activity, treatment history, and laboratory markers.
Basically, we aim to compare what physicians report about colchicine resistance in clinical practice through standardized questionnaires (the JIR CliPS questionnaires) with what is actually done, as documented in international patient registries.
By comparing how doctors across different countries recognize and treat colchicine-resistant FMF, the project will help highlight differences between clinical guidelines and real-world practice, identify patterns in how resistance is suspected and treated, support the creation of a shared international definition of colchicine resistance, promote more equal and personalized care for FMF patients, regardless of where they live.

Ultimately, our goal is to improve understanding, reduce disparities, and help patients receive the right treatment at the right time.

Epidemiological description of the JIR-cohort juvenile neuropsychiatric lupus erythematosous. Preliminary study, that will pave the path for a secondary descriptive study about affected neuropsychiatric systemic lupus in pediatric-onset lupus.

We are part of an international research study focused on finding better treatment strategies for children and adolescents living with lupus. Because lupus in young people is rare, it is important to combine data from different countries to better understand the disease.
Our registry shares data securely with teams at the University of Liverpool (UK) and Duke University (USA), who are working with other large registries in the UK and the US. The goal is to define targets for treatment, such as “remission” or “low disease activity,” and understand how achieving these targets affects the long-term health of patients.

This study evaluates the effect of Anakinra on inflammation and coronary aneurysms in children
with Kawasaki disease. It aims to improve therapeutic strategies and long-term cardiovascular
outcomes.

The Swiss Federal Office of Public Health, the BAG (Bundesamt für Gesundheit), asks Novartis Switzerland to share with them a yearly report indicating the use of canakinumab in Swiss patients with FMF, MKD or TRAPS. These reports will allow the BAG to evaluate the economic impact of this treatment.

The raw data is analyzed by the Fondation RES’ team who will prepare a report with aggregated data. No individual data will be shared with Novartis and the BAG.

Autoinflammatory diseases are rare conditions in which the immune system becomes overactive, causing repeated episodes of fever, pain, and inflammation. Zinc is an essential nutrient that helps regulate the immune system. When zinc levels are too low, it may worsen inflammation. However, zinc is rarely measured in patients with autoinflammatory diseases, and its potential role in these conditions is still unclear.

This study aims to analyze retrospectively the medical records of patients followed at Versailles hospital for an autoinflammatory disease who had their zinc levels tested. We want to find out whether these patients are more likely to have a zinc deficiency and whether this deficiency is linked to more active disease or higher levels of inflammation in the blood.

The goal is to better understand how zinc may influence these diseases and whether checking zinc levels could help improve patient care in the future — for example, through dietary advice or supplementation if needed.

Cryopyrin-associated periodic syndromes (CAPS) are auto-inflammatory diseases caused by a mutation in the NLRP3 gene, leading to excessive inflammation. The aim of this research project is to describe the possible association between CAPS and eosinophilic meningitis, a previously undescribed complication of this disease. Eosinophilic meningitis is generally associated with infectious or inflammatory causes, and remains little studied in the context of autoinflammatory diseases.

Avaliar a presença de AAbs anti-IFN-alfa2 em uma coorte multicêntrica francesa de pacientes pediátricos com LES

A febre mediterrânica familiar (FMF) é uma doença genética caracterizada por episódios recorrentes de inflamação. Normalmente, requer duas variantes patogénicas para se manifestar, mas alguns doentes com apenas uma variante podem desenvolver sintomas moderados. Atualmente, não foi identificado nenhum marcador de atividade específico, uma vez que os marcadores inflamatórios clássicos carecem de especificidade. Este estudo tem como objetivo determinar se a calprotectina sérica pode servir como um biomarcador específico da atividade da FMF e se pode ajudar a orientar a decisão de iniciar o tratamento com colchicina em doentes heterozigóticos.

Compreender uma doença rara na primeira infância
A artrite idiopática juvenil (AIJ) é um tipo de inflamação das articulações que afecta as crianças. Quando aparece em bebés com menos de 1 ano de idade, é muito rara e pode ser difícil de reconhecer. Os primeiros sinais podem ser subtis e o diagnóstico pode demorar algum tempo.

Qual é o objetivo deste estudo?
O nosso estudo centra-se na compreensão de como a AIJ aparece nos bebés, incluindo:
- Quais são os primeiros sintomas
- Quanto tempo demora a obter um diagnóstico
- Que tipos de AIJ ocorrem
- Que tratamentos são utilizados
- Como é que a doença afecta as crianças ao longo do tempo
Também comparamos estes bebés com crianças ligeiramente mais velhas (com idades entre 1 e 6 anos) que também têm AIJ, para ver como a doença pode diferir consoante a idade.

Takeaway Message
Se o seu bebé apresentar inchaço, rigidez ou dor inexplicáveis nas articulações - especialmente sem sinais de infeção - fale com um pediatra ou especialista. Quanto mais cedo percebermos o que se está a passar, melhor podemos ajudar.