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Article ; Online: Genetic interferonopathies: An overview.

Eleftheriou, Despina / Brogan, Paul A

Best practice & research. Clinical rheumatology

2018 Volume 31, Issue 4, Page(s) 441–459

Abstract: Interferonopathies comprise an expanding group of monogenic diseases characterised by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses. Although differing in the degree of phenotypic expression and severity, the ... ...

Abstract	Interferonopathies comprise an expanding group of monogenic diseases characterised by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses. Although differing in the degree of phenotypic expression and severity, the clinical presentation of these diseases shows a considerable degree of overlap, reflecting their common pathogenetic mechanisms. Increased understanding of the molecular basis of these Mendelian disorders has led to the identification of targeted therapies for these diseases, which could also be of potential relevance for non-genetic IFN-mediated diseases such as systemic lupus erythematosus and juvenile dermatomyositis. In this paper, we summarise the current knowledge of the molecular basis, clinical features and the treatment available for monogenic interferonopathies.
MeSH term(s)	Autoimmune Diseases/diagnosis ; Autoimmune Diseases/genetics ; Autoimmune Diseases of the Nervous System/diagnosis ; Autoimmune Diseases of the Nervous System/genetics ; Humans ; Interferon Type I/genetics ; Proteasome Endopeptidase Complex
Chemical Substances	Interferon Type I ; Proteasome Endopeptidase Complex (EC 3.4.25.1)
Language	English
Publishing date	2018-02-01
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2052323-3
ISSN	1532-1770 ; 1521-6942
ISSN (online)	1532-1770
ISSN	1521-6942
DOI	10.1016/j.berh.2017.12.002
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Article: Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification.

Kul Cinar, Ovgu / Putland, Amber / Wynne, Karen / Eleftheriou, Despina / Brogan, Paul A

Frontiers in pediatrics

2022 Volume 10, Page(s) 867679

Abstract: Hereditary systemic autoinflammatory diseases (SAIDs) are rare, often severe conditions characterised by mutations in the key regulators of innate immune responses. Dramatic advances in the molecular genetics and next-generation sequencing in the past ... ...

Abstract	Hereditary systemic autoinflammatory diseases (SAIDs) are rare, often severe conditions characterised by mutations in the key regulators of innate immune responses. Dramatic advances in the molecular genetics and next-generation sequencing in the past decade enabled identification of novel mutations that play a pivotal role in the mechanistic pathways of inflammation. Although genetic testing may not always provide straightforward guidance in diagnosis and clinical decision making, through translational research, it sheds light into molecular immunopathogenesis, particularly in IL-1 inflammasome and cytokine signalling pathways. These remarkable insights provided a better understanding of autoinflammatory conditions and their association with the innate and adaptive immune systems, as well as leading to development of cytokine-targetted biologic treatments. Use of targetted therapeutics not only helps control disease flares, reduce acute-phase responses and prevent devastating complications such as amyloidosis, but also improves health-related quality of lives and support patients to pursue almost a normal life. Herein, we discuss the commonest monogenic SAIDs, describe their immunopathology, and summarise the approaches in the management and targetted treatment of these conditions, including presentation of novel data based on a cohort of children with these rare diseases from a single quaternary referral centre in London.
Language	English
Publishing date	2022-04-28
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2022.867679
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Article: Paediatric Behçet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics.

Kul Cinar, Ovgu / Romano, Micol / Guzel, Ferhat / Brogan, Paul A / Demirkaya, Erkan

Journal of clinical medicine

2022 Volume 11, Issue 5

Abstract: Behçet's disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, ...

Abstract	Behçet's disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, especially into monogenic mimics of BD. Although a rare condition, paediatric BD should be considered an important differential diagnosis, especially in cases with similar phenotypes. Emerging reports of monogenic mimics have indicated the importance of genetic testing, particularly for those with early-onset, atypical features and familial aggregation. Treatment options ought to be evaluated in a multidisciplinary setting, given the complexity and diverse organ involvement. Owing to the rarity of the condition, there is a paucity of paediatric trials; thus, international collaboration is warranted to provide consensus recommendations for the management of children and young people. Herein, we summarise the current knowledge of the clinical presentation, immunopathogenetic associations and disease mechanisms in patients with paediatric BD and BD-related phenotypes, with particular emphasis on recently identified monogenic mimics.
Language	English
Publishing date	2022-02-26
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm11051278
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Article ; Online: Risk-proportionate approach to paediatric clinical trials: The legal requirements, challenges, and the way forward under the European Union Clinical Trials Regulation.

Wan, Mandy / Alessandrini, Elisa / Brogan, Paul / Eleftheriou, Despina / Warris, Adilia / Brüggemann, Roger / Turner, Mark

Clinical trials (London, England)

2022 Volume 19, Issue 5, Page(s) 573–578

Abstract: Background: It is now widely accepted that there is a need for safety and efficacy data on medicines used in children. In the European Union, legislation has provided the necessary framework obligating and incentivizing pharmaceutical companies to carry ...

Abstract	Background: It is now widely accepted that there is a need for safety and efficacy data on medicines used in children. In the European Union, legislation has provided the necessary framework obligating and incentivizing pharmaceutical companies to carry out appropriate paediatric research to support the development of new medicines. This change in research culture, that medicines used in children should be appropriately researched in children, has also led to the recognition of the importance of investigator-initiated clinical trials in furthering medical knowledge on the off-label use of authorized medicines for which paediatric data are often limited. However, medicines regulatory authorities of European Union countries have largely adopted a uniform approach to the regulation of both industry-sponsored and investigator-initiated trials and, in doing so, have added disproportionate burden to the conduct of paediatric clinical trials investigating authorized medicines. Case studies: Two European multinational paediatric clinical trials funded by the conect4children consortium are presented to provide a comparative insight into past challenges and to illustrate how the new framework provided by the European Clinical Trials Regulation (No. 536/2014) addresses these barriers in practice. Conclusion: The European Clinical Trials Regulation gives a strong impetus to a risk-proportionate approach and offers a path for more efficient delivery of investigator-initiated paediatric clinical trials.
MeSH term(s)	Child ; European Union ; Humans ; Pharmaceutical Preparations ; Research Personnel
Chemical Substances	Pharmaceutical Preparations
Language	English
Publishing date	2022-05-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2138796-5
ISSN	1740-7753 ; 1740-7745
ISSN (online)	1740-7753
ISSN	1740-7745
DOI	10.1177/17407745221093812
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Article ; Online: Autoinflammation: When is familial Mediterranean fever 'severe'?

Lachmann, Helen J / Brogan, Paul A

Nature reviews. Rheumatology

2016 Volume 12, Issue 5, Page(s) 256–258

Language	English
Publishing date	2016-04-25
Publishing country	United States
Document type	Journal Article
ZDB-ID	2491532-4
ISSN	1759-4804 ; 1759-4790
ISSN (online)	1759-4804
ISSN	1759-4790
DOI	10.1038/nrrheum.2016.55
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Article: Real-World Effectiveness of Dolutegravir/Lamivudine in People With HIV-1 in Test-and-Treat Settings or With High Baseline Viral Loads: TANDEM Study Subgroup Analyses.

Benson, Paul / Kuretski, Jennifer / Donovan, Cynthia / Harper, Gavin / Merrill, Deanna / Metzner, Aimee A / Mycock, Katie / Wallis, Hannah / Brogan, Andrew P / Patarroyo, Jimena / Oglesby, Alan

Infectious diseases and therapy

2024

Abstract: Introduction: Dolutegravir/lamivudine (DTG/3TC) was first approved by the US Food and Drug Administration in 2019 for the treatment of antiretroviral therapy (ART)-naive people with HIV-1 based on results from the pivotal GEMINI-1/GEMINI-2 trials. ... ...

Abstract	Introduction: Dolutegravir/lamivudine (DTG/3TC) was first approved by the US Food and Drug Administration in 2019 for the treatment of antiretroviral therapy (ART)-naive people with HIV-1 based on results from the pivotal GEMINI-1/GEMINI-2 trials. Around that time, immediate initiation of treatment upon diagnosis was recommended in the US Department of Health and Human Services guidelines. Here we report results from 126 treatment-naive people with HIV-1 who initiated DTG/3TC as part of a test-and-treat strategy (n = 61) or with high baseline viral loads (HIV-1 RNA ≥ 100,000 copies/ml; n = 16) from the TANDEM study. Methods: TANDEM was a US-based, retrospective chart review study that included a cohort of 126 individuals aged ≥ 18 years with no prior history of ART who initiated DTG/3TC before September 30, 2020, and had ≥ 6 months of follow-up. Test-and-treat was defined as ART initiation shortly after diagnosis without available viral load, CD4 + cell count, or HIV-1 resistance data. Outcomes included virologic suppression (HIV-1 RNA < 50 copies/ml; overall and by baseline viral load) and discontinuations. Analyses were descriptive. Results: Among 61 individuals who initiated DTG/3TC in a test-and-treat setting (median [interquartile range (IQR)] treatment duration, 1.3 [0.9-1.7] years), 57 (93%) achieved virologic suppression, and 51 (84%) remained suppressed; 1 (< 1%) individual discontinued DTG/3TC due to persistent low-level viremia. The most common healthcare provider (HCP)-reported reason for initiating DTG/3TC was avoidance of long-term toxicities among individuals in the test-and-treat subgroup. Of 16 treatment-naive individuals with high baseline viral loads (median [IQR] treatment duration, 100,000-250,000 copies/ml: 1.2 [0.8-1.8] years; > 250,000 copies/ml: 1.0 [0.7-1.1] years), 14 (88%) achieved virologic suppression, 13 (81%) remained suppressed, and none discontinued DTG/3TC. Patient preference was the most common HCP-reported reason for initiating DTG/3TC in this subgroup. Conclusions: Results demonstrate real-world effectiveness of DTG/3TC, with few discontinuations, in people with HIV-1 in test-and-treat settings or with high baseline viral loads.
Language	English
Publishing date	2024-04-03
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2701611-0
ISSN	2193-6382 ; 2193-8229
ISSN (online)	2193-6382
ISSN	2193-8229
DOI	10.1007/s40121-024-00950-1
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Article ; Online: Retinal vasculopathy in STING-associated vasculitis of infancy (SAVI).

Cooray, Samantha / Henderson, Robert / Solebo, Ameenat Lola / Ancliffe, Phil / Eleftheriou, Despina / Brogan, Paul A

Rheumatology (Oxford, England)

2021 Volume 60, Issue 10, Page(s) e351–e353

MeSH term(s)	Child ; Child, Preschool ; Gain of Function Mutation/genetics ; Humans ; Male ; Medical Illustration ; Membrane Proteins/genetics ; Phenotype ; Retinal Vasculitis/genetics ; Vasculitis/genetics
Chemical Substances	Membrane Proteins ; STING1 protein, human
Language	English
Publishing date	2021-03-25
Publishing country	England
Document type	Case Reports ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/keab297
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Book: Paediatric nephrology

Rees, Lesley / Webb, Nicholas J. A. / Brogan, Paul A.

(Oxford specialist handbooks in paediatrics)

2007

Author's details	Lesley Rees ; Nicolas J. A. Webb ; Paul A. Brogan
Series title	Oxford specialist handbooks in paediatrics
Keywords	Kidney Diseases ; Child ; Infant ; Pediatric nephrology
Subject code	618.9261
Language	English
Size	XXIII, 618 S. : Ill., graph. Darst., 18cm
Publisher	Oxford Univ. Press
Publishing place	Oxford
Publishing country	Great Britain
Document type	Book
HBZ-ID	HT014874454
ISBN	0-19-856941-6 ; 978-0-19-856941-1
Database	Catalogue ZB MED Medicine, Health

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Article ; Online: Therapeutic advances in the treatment of vasculitis.

Eleftheriou, Despina / Brogan, Paul A

Pediatric rheumatology online journal

2016 Volume 14, Issue 1, Page(s) 26

Abstract: Considerable therapeutic advances for the treatment of vasculitis of the young have been made in the past 10 years, including the development of outcome measures that facilitate clinical trial design. Notably, these include: a recognition that some ... ...

Abstract	Considerable therapeutic advances for the treatment of vasculitis of the young have been made in the past 10 years, including the development of outcome measures that facilitate clinical trial design. Notably, these include: a recognition that some patients with Kawasaki Disease require corticosteroids as primary treatment combined with IVIG; implementation of rare disease trial design for polyarteritis nodosa to deliver the first randomised controlled trial for children; first clinical trials involving children for anti-neutrophil cytoplasmic antibody (ANCA) vasculitis; and identification of monogenic forms of vasculitis that provide an understanding of pathogenesis, thus facilitating more targeted treatment. Robust randomised controlled trials for Henoch Schönlein Purpura nephritis and Takayasu arteritis are needed; there is also an over-arching need for trials examining new agents that facilitate corticosteroid sparing, of particular importance in the paediatric population since glucocorticoid toxicity is a major concern.
MeSH term(s)	Child ; Drug Therapy, Combination/methods ; Glucocorticoids/pharmacology ; Humans ; Immunoglobulins, Intravenous/pharmacology ; Immunologic Factors/pharmacology ; Medication Therapy Management ; Vasculitis/classification ; Vasculitis/diagnosis ; Vasculitis/therapy
Chemical Substances	Glucocorticoids ; Immunoglobulins, Intravenous ; Immunologic Factors
Language	English
Publishing date	2016-04-26
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2279468-2
ISSN	1546-0096 ; 1546-0096
ISSN (online)	1546-0096
ISSN	1546-0096
DOI	10.1186/s12969-016-0082-8
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Article ; Online: Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS.

Cetin Gedik, Kader / Ortega-Villa, Ana M / Materne, Grace / Rastegar, Andre / Montealegre Sanchez, Gina A / Reinhardt, Adam / Brogan, Paul A / Berkun, Yackov / Murias, Sara / Robles, Maria / Schalm, Susanne / de Jesus, Adriana A / Goldbach-Mansky, Raphaela

Annals of the rheumatic diseases

2024

Abstract: Objectives: Patients with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS) respond to the janus kinase inhibitor 1/2 inhibition with baricitinib at ... ...

Abstract	Objectives: Patients with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS) respond to the janus kinase inhibitor 1/2 inhibition with baricitinib at exposures higher than in rheumatoid arthritis. Baricitinib dose reductions to minimise exposure triggered disease flares which we used to develop 'flare criteria'. Methods: Of 10 patients with CANDLE/PRAAS treated with baricitinib in an open-label expanded-access programme, baricitinib doses were reduced 14 times in 9 patients between April 2014 and December 2019. Retrospective data analysis of daily diary scores and laboratory markers collected before and after the dose reductions were used to develop 'clinical' and 'subclinical' flare criteria. Disease flare rates were compared among patients with <25% and >25% dose reductions and during study visits when patients received recommended 'optimized' baricitinib doses (high-dose visits) versus lower than recommended baricitinib doses (low-dose visits) using two-sided χ Results: In the 9/10 patients with CANDLE with dose reduction, 7/14 (50%) times the dose was reduced resulted in a disease flare. All four dose reductions of >25% triggered a disease flare (p <0.05). Assessment of clinical and laboratory changes during disease flares allowed the development of disease flare criteria that were assessed during visits when patients received high or low doses of baricitinib. Disease flare criteria were reached during 43.14% of low-dose visits compared with 12.75% of high-dose visits (p <0.0001). Addition of an interferon score as an additional flare criterion increased the sensitivity to detect disease flares. Conclusion: We observed disease flares and rebound inflammation with baricitinib dose reductions and proposed flare criteria that can assist in monitoring disease activity and in designing clinical studies in CANDLE/PRAAS.
Language	English
Publishing date	2024-04-23
Publishing country	England
Document type	Journal Article
ZDB-ID	7090-7
ISSN	1468-2060 ; 0003-4967
ISSN (online)	1468-2060
ISSN	0003-4967
DOI	10.1136/ard-2023-225463
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