Activities

The SCIENTIFIC VOICE of the ERN ReCONNET MEMBERS

Identification of red flags for IgG4-related disease: an international European Reference Network for Rare Connective Tissue Diseases framework

Della-Torre E, Talarico R, Ballarin J, Bozzalla-Cassione E, Cardamone C, Cigolini C, Ferro F, Fonseca T, Fragoulis GE, Galetti I, Gerosa M, Hernández-Rodríguez J, Lanzillotta M, Marinello D, Martin T, Martinez-Valle F, Maślińska M, Moretti M, Mosca M, Müller-Ladner U, Nalli C, Orsolini G, Pamfil C, Perez-Garcia G, Priori R, Quattrocchio G, Ramming A, Regola F, Romão VC, Silva A, van Laar JAM, Vicente-Edo MJ, Vinker S, Alexander T. Identification of red flags for IgG4-related disease: an international European Reference Network for Rare Connective Tissue Diseases framework. Lancet Rheumatol. 2025 Jan;7(1):e64-e71. doi: 10.1016/S2665-9913(24)00192-9. Epub 2024 Oct 29. PMID: 39486422.

 

Improving organisation to improve care: ERN ReCONNET organisational reference model for systemic sclerosis patients’ care pathway

Talarico R, Marinello D, Palla I, Cannizzo S, Galetti I, Farrington S, Aguilera S, Andersen J, Ceccatelli E, Cornet A, Cutillas G, Esteves M, Frank C, Leite C, Niehaus G, Perez Gomez E, Polfliet K, Sandulescu S, Schriemer R, Barsotti S, Bellando-Randone S, Beretta L, Bernardino V, Boleto G, Bombardieri S, Burmester G, Cavazzana I, Codullo V, Cutolo M, Dalm V, Damian L, Della Rossa A, Doria A, Farhat MM, Fonseca JE, Hachulla E, Houssiau F, Grazia Lazzaroni M, Limper M, Lorenzoni V, Montecucco C, Mosca M, Mouthon L, Müeller-Ladner U, Pha M, Ponte C, Spierings J, Sulli A, Taulaigo AV, Ticciati S, Tincani A, Toplak N, Trieste L, van Hagen PM, van Laar J, Vanthuyne M, Vigone B, de Vries-Bouwstra JK, Zen M, Turchetti G, Smith V, Matucci Cerinic M. Improving organisation to improve care: ERN ReCONNET organisational reference model for systemic sclerosis patients’ care pathway. J Scleroderma Relat Disord. 2024 Oct 7:23971983241269109. doi: 10.1177/23971983241269109. Epub ahead of print. PMID: 39544904; PMCID: PMC11559522.

 

ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products. 

Talarico R, Ramirez GA, Barreira SC, Cardamone C, Triggianese P, Aguilera S, Andersen J, Avcin T, Benistan K, Bertsias G, Bortoluzzi A, Bouillot C, Bulina I, Burmester GR, Callens S, Carreira PE, Cervera R, Cutolo M, Damian L, Della-Torre E, Faria R, Fonseca JE, Galetti I, Hachulla E, Iaccarino L, Jacobsen S, Khmelinskii N, Limper M, Marinello D, Meyer A, Moroncini G, Nagy G, Olesinska M, Pamfil C, Pileckyte M, Pistello M, Rednic S, Richez C, Romão VC, Schneider M, Sciascia S, Scirè CA, Simonini G, Smith V, Sulli A, Tani C, Tas SW, Tincani A, Vonk MC, Tektonidou M, Mosca M. ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products. Clin Exp Rheumatol. 2023 Mar;41(3):543-553. doi: 10.55563/clinexprheumatol/jpargp. Epub 2023 Mar 14. PMID: 36916322.

 

An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET

Bandeira M, Di Cianni F, Marinello D, Arnaud L, Cannizzo S, Carta C, Cornet A, Barril SM, Bulina I, Ferraris A, Fonseca J, Gaglioti A, Limper M, Lorenzoni V, Majnik J, Matucci-Cerinic M, Palla I, Rednic S, Schneider M, Smith V, Sulli A, Søndergaard K, Ticciati S, Tincani A, Turchetti G, Talarico R, Cutolo M, Mosca M, Taruscio D. An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET. Front Med (Lausanne). 2022 Sep 26;9:889997. doi: 10.3389/fmed.2022.889997. PMID: 36226147; PMCID: PMC9549150.

 

The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET

Talarico R, Aguilera S, Alexander T, Amoura Z, Antunes AM, Arnaud L, Avcin T, Beretta L, Bombardieri S, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Costedoat-Chalumeau N, Doria A, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Grunert J, Guimarães V, Hachulla E, Houssiau F, Iaccarino L, Krieg T, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Montecucco C, Mouthon L, Müller-Ladner U, Rednic S, Romão VC, Schneider M, Smith V, Sulli A, Tamirou F, Taruscio D, Taulaigo AV, Terol E, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Vieira A, de Vries-Bouwstra JK, Cutolo M, Mosca M. The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET. Nat Rev Rheumatol. 2021 Mar;17(3):177-184. doi: 10.1038/s41584-020-00565-z. Epub 2021 Jan 6. Erratum in: Nat Rev Rheumatol. 2022 Dec;18(12):734. doi: 10.1038/s41584-022-00862-9. PMID: 33408338; PMCID: PMC7786339.

 

An Opportunity to Harmonise the Approach to Patients’ Care Pathways for Rare and Complex Diseases: RarERN Path™

Talarico R, Marinello D, Cannizzo S, Palla I, Ticciati S, Gaglioti A, Rys A, Milli C, Taruscio D, Mosca M, Turchetti G. An Opportunity to Harmonise the Approach to Patients’ Care Pathways for Rare and Complex Diseases: RarERN Path™. Front Health Serv. 2022 Jul 13;2:935014. doi: 10.3389/frhs.2022.935014. PMID: 36925875; PMCID: PMC10012666.

 

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

Talarico R, Cannizzo S, Lorenzoni V, Marinello D, Palla I, Pirri S, Ticciati S, Trieste L, Triulzi I, Terol E, Bucher A, Turchetti G. RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks. Orphanet J Rare Dis. 2020 Dec 14;15(1):347. doi: 10.1186/s13023-020-01631-1. Erratum in: Orphanet J Rare Dis. 2021 Mar 22;16(1):146. doi: 10.1186/s13023-021-01778-5. PMID: 33317578; PMCID: PMC7734838.

ERN ReCONNET SUPPLEMENT 

Rare inside rare: Rare aspects of rare and complex connective tissue and musculoskeletal diseases

The Supplement (Clinical and Experimental Rheumatology, 2022) presents an overview on different and relevant aspects associated to such rare and complex diseases with a collection of reviews, scientific articles, and case reposts. Below the specific links to the single articles.

Review

The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET Talarico et al.

Full Papers

Rarities in rare: illuminating the microvascular and dermal status in juvenile localised scleroderma. A case series. Vanhaecke et al.

Gender differences in primary antiphospholipid syndrome with vascular manifestations in 433 patients from four European centres. Moschetti et al. 

Anti-Ro52 antibodies positivity in antisynthetase syndrome: a single centre cohort study. Bozzalla-Cassione et al.

Off-label use of mycophenolate mofetil in the treatment of rare and complex rheumatic connective tissue diseases. Bandeira et al.

Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review. Mucke et al.

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports. Colman et al. 

Brief Papers

Rheumatology residency in a European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases centre: opportunities and challenges. Dourado et al.

Health-related quality of life in patients with mixed connective tissue disease: a comparison with matched systemic sclerosis patients. Abouyahya et al. 

Reviews

Blood biomarkers recommended for diagnosing and monitoring IgG4-related disease. Considerations from the ERN ReCONNET and collaborating partners. Iaccarino et al. 

Treatment of relapsing polychondritis: a systematic review. Petitdemange et al.

Rare within rare. Necrotising scleritis and peripheral ulcerative keratitis: eye-threatening complications of relapsing polychondritis. Damian et al.

Rare clinical manifestations in systemic lupus erythematosus: a review on frequency and clinical presentation. Tani et al.

Sjögren’s syndrome and other rare and complex connective tissue diseases: an intriguing liaison. Baldini et al. 

Case Reports

Hoarseness as the presentation of immunoglobulin G4-related disease with vocal cord and mediastinal infiltration. Dourado et al.

Efficacy of intravenous immunoglobulin in shrinking lung syndrome associated with mixed connective tissue disease: a case report. Silvério-António et al.

Capillary leak syndrome in a patient with cancer-associated anti-transcriptional intermediary factor 1γ dermatomyositis treated with rituximab. Palermo et al.

Respiratory failure due to concomitant interstitial lung disease and diaphragmatic involvement in a patient with anti-MDA5 dermatomyositis: a case report. Grignaschi et al.

STATE of the ART on CPGs

State of the Art on clinical practice guidelines on rare and complex Connective Tissue Diseases

The Supplement (BMJ, 2018) presents a short report on the first year of activity of the ERN ReCONNET, ten reviews on clinical practice guidelines of the Diseases covered by the ERN ReCONNET project, and a report on rCTDS Health Economics. This is one of the first results of the collaboration of Healthcare Providers and Patients in the framework of the ERN ReCONNET. Below the specific links to the single articles.

Clinical practice guidelines: the first year of activity of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). Marta Mosca and Maurizio Cutolo

Antiphospholipid syndrome: state of the art on clinical practice guidelines. Limper et al. 

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines. Sulli et al. 

Idiopathic inflammatory Myopathies: state of the art on clinical practice guidelines. Meyer et al.

IgG4-related disease: state of the art on clinical practice guidelines. Iaccarino et al. 

Mixed connective tissue disease: state of the art on clinical practice guidelines. Chaigne et al. 

Relapsing polychondritis: state of the art on clinical practice guidelines. Rednic et al. 

Sjögren’s syndrome: state of the art on clinical practice guidelines. Romão et al. 

Systemic Lupus Erythematosus: state of the art on clinical practice guidelines. Tamirou et al.

Systemic sclerosis: state of the art on clinical practice guidelines. Smith et al. 

Undifferentiated Connective Tissue Disease: state of the art on clinical practice guidelines. Antunes et al. 

Rare diseases under different levels of economic analysis: current activities, challenges and perspectives. Cannizzo et al.