Generalized pustular psoriasis: the case for rare disease and orphan designation

Kořen, Jan; Mburu, Sicily; Damiani, Giovanni; Naldi, Luigi

doi:10.1111/bjd.21231

Cited by 4 publications

(6 citation statements)

References 5 publications

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“…Notwithstanding the poor and heterogeneous evidence available, consensus was rapidly achieved that GPP is rare in Italy, with experts estimating the prevalence ranging between 1 and 3 cases per million inhabitants and the incidence between 0.5 and 1 new case per million personyears. The OrphaNet website (https://www.orpha.net/, last accessed on January 10, 2024) includes GPP among rare diseases, and recentlythrough a Delphi approachclear consensus emerged among an international group of experts that GPP is a rare lifethreatening or chronically debilitating condition with prevalence below 50 per 100,000 in the EU [14]. A consensus on the main characteristics of GPP flares, including their frequency, duration, and severity, was achieved in this study, thus providing a detailed description of the acute phase of disease.…”

Section: Discussionmentioning

confidence: 99%

“…Within the framework of rare diseases, such as GPP, where quantitative data are lacking, opinions of experts involved in the diagnostic and management pathways may provide, through adequate methodologies of consensus, valuable tools to the overall care of the disease [13][14][15]. Delphi methods are increasingly used and may help, at a national level, to define the standards and identify potential gaps in the pathway of care.…”

Section: Introductionmentioning

confidence: 99%

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Epidemiology, Characteristics of Disease, and Unmet Needs of Patients with Generalized Pustular Psoriasis: A Large Italian Delphi Consensus

Prignano,

Atzori,

Bellinato

et al. 2024

Dermatology

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Introduction: Generalized pustular psoriasis (GPP) is a rare and chronic, debilitating skin condition characterized, in its acute flare phase, by clinically severe and potentially life-threatening systemic manifestations. Data on GPP are still scanty, particularly in Europe and at a national level. The aim of this study was to provide expert indications on several disease-related and patient-related aspects of GPP, with specific focus to the Italian context. Methods: We conducted an iterative eDelphi study following the recommended criteria for reporting methods and results. After a thorough bibliographic review aimed to identify unknown or controversial issues in GPP, the following areas were investigated through a few specific questions/statements for each area: (1) disease epidemiology; (2) disease characteristics, with specific interest toward GPP flares; (3) diagnosis and diagnostic delay; (4) GPP treatment; (5) GPP patient journey and use of healthcare resources in Italy; (6) unmet needs and quality of life. An Executive Board of 9 principal investigators revised and approved the topics to be examined and overviewed the whole project. A total of 35 experts from different Italian areas, including 34 board-certified Italian dermatologists and 1 representative of patients’ associations, took part in the study. Results: A high agreement in responses from Italian experts emerged during two eDelphi iterations on – among several other aspects – GPP prevalence and incidence in Italy, use of European Rare and Severe Psoriasis Expert Network diagnostic criteria, flare frequency and duration, best diagnostic and care pathway, and main unmet needs of Italian patients. On the other hand, a broad spectrum of treatments (of different drug classes) was reported both in the acute and chronic phases of GPP, and no consensus on the issue was thus achieved. Conclusions: Consensus findings from this Delphi study of GPP experts may be useful to fill gaps of knowledge and improve awareness of this rare disease, as well as to help clinical and public health management of GPP in Italy.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Epidemiology, Characteristics of Disease, and Unmet Needs of Patients with Generalized Pustular Psoriasis: A Large Italian Delphi Consensus

Prignano,

Atzori,

Bellinato

et al. 2024

Dermatology

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“…Moreover, patients with GPP often experience anxiety and depression, which further impact their quality of life [13,14]. It was proposed at recent roundtable meetings between GPP clinical experts and patient advocacy groups that the term "skin failure" be used to capture the disastrous impact of the overwhelming skin and systemic inflammation seen in GPP [15]. Although in recent years, European and Japanese definitions of GPP have been published, there is a lack of international consensus on its diagnosis and treatment [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…Although in recent years, European and Japanese definitions of GPP have been published, there is a lack of international consensus on its diagnosis and treatment [ 1 , 2 ]. In line with this, the patient roundtable meetings also highlighted the need for an improved definition of GPP and emphasized the importance of distinguishing the disease from other forms of psoriasis [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

“…Some biologic therapies have been approved for use in patients with GPP in Japan, based on small open-label studies; these include tumor necrosis factor α inhibitors, interleukin (IL)-17/IL-17 receptor inhibitors, and IL-23 inhibitors [ 2 , 16 , 17 ]. Current therapeutic strategies are slow to control GPP flares and do not always completely resolve GPP disease manifestations [ 15 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics and Outcomes of Generalized Pustular Psoriasis Flares

Choon¹,

Lebwohl²,

Turki³

et al. 2023

Dermatology

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Background: Generalized pustular psoriasis (GPP) is a rare, neutrophilic skin disease that can become life-threatening if flares are untreated. There are limited data describing the characteristics and clinical course of GPP disease flares with current treatment options. Objective: To describe the characteristics and outcomes of GPP flares using historical medical information from patients enrolled in the Effisayil™ 1 trial. Methods: Investigators collected retrospective medical data characterizing patients’ GPP flares prior to clinical trial enrollment. Data on overall historical flares were collected, as well as information on patients’ typical, most severe, and longest past flares. This included data on systemic symptoms, flare duration, treatment, hospitalization, and time to clearance of skin lesions. Results: In this cohort (N=53), patients with GPP experienced a mean of 3.4 flares per year. Flares were painful, associated with systemic symptoms, and often triggered by stress, infections, or treatment withdrawal. Resolution of flares was longer than 3 weeks in 57.1%, 71.0%, and 85.7% of documented (or identified) typical, most severe, and longest flares, respectively. GPP flares led to patient hospitalization in 35.1%, 74.2%, and 64.3% of patients for their typical, most severe, and longest flares, respectively. For the majority of patients, pustules took up to 2 weeks to clear for a typical flare and 3–8 weeks to clear for the most severe and longest flares. Conclusion: Our findings highlight that current treatment options are slow to control GPP flares and provide context for assessing the efficacy of new therapeutic strategies in patients with a GPP flare.

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Generalized pustular psoriasis is a disease distinct from psoriasis vulgaris: evidence and expert opinion

Bachelez

Barker

Burden

et al. 2022

Expert Review of Clinical Immunology

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Generalized pustular psoriasis: the case for rare disease and orphan designation

Abstract: Abstract

Cited by 4 publications

References 5 publications

Epidemiology, Characteristics of Disease, and Unmet Needs of Patients with Generalized Pustular Psoriasis: A Large Italian Delphi Consensus

Epidemiology, Characteristics of Disease, and Unmet Needs of Patients with Generalized Pustular Psoriasis: A Large Italian Delphi Consensus

Clinical Characteristics and Outcomes of Generalized Pustular Psoriasis Flares

Generalized pustular psoriasis is a disease distinct from psoriasis vulgaris: evidence and expert opinion

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