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1. Mapping exercise and status update of eight established registries within the TREatment of ATopic eczema (TREAT) Registry Taskforce

Author

Bosma, A. L., Musters, A. H., Bloem, M., Gerbens, L. A. A., Middelkamp-Hup, M. A., Haufe, E., Schmitt, J., Barbarot, S., Seneschal, J., Staumont-Sallé, D., Johansson, E. K., Bradley, M., von Kobyletzki, Laura B., Vittrup, I., Ruge, I. Frier, Thyssen, Jacob P., Vestergaard, C., de Vega, M., García-Doval, I., Chiricozzi, A., Stingeni, Luca, Calzavara-Pinton, Piergiacomo, Ardern-Jones, M. R., Reynolds, N. J., Flohr, C., Spuls, P. I., Bosma, A. L., Musters, A. H., Bloem, M., Gerbens, L. A. A., Middelkamp-Hup, M. A., Haufe, E., Schmitt, J., Barbarot, S., Seneschal, J., Staumont-Sallé, D., Johansson, E. K., Bradley, M., von Kobyletzki, Laura B., Vittrup, I., Ruge, I. Frier, Thyssen, Jacob P., Vestergaard, C., de Vega, M., García-Doval, I., Chiricozzi, A., Stingeni, Luca, Calzavara-Pinton, Piergiacomo, Ardern-Jones, M. R., Reynolds, N. J., Flohr, C., and Spuls, P. I.

Abstract

BACKGROUND: the TREatment of ATopic eczema (TREAT) Registry Taskforce is a collaborative international network of registries collecting data of atopic eczema (AE) patients receiving systemic and phototherapy with the common goal to provide long-term real-world data on the effectiveness, safety and cost-effectiveness of therapies. A core dataset, consisting of domains and domain items with corresponding measurement instruments, has been developed to harmonize data collection. OBJECTIVES: we aimed to give an overview of the status and characteristics of the eight established TREAT registries, and to perform a mapping exercise to examine the degree of overlap and pooling ability between the national registry datasets. This will allow us to determine which research questions can be answered in the future by pooling data. METHODS: all eight registries were asked to share their dataset and information on the current status and characteristics. The overlap between the core dataset and each registry dataset was identified (according to the domains, domain items and measurement instruments of the TREAT core dataset). RESULTS AND CONCLUSIONS: a total of 4,702 participants have been recruited in the 8 registries as of 1st of May 2022. Of the 69 core dataset domain items, data pooling was possible for 69 domain item outcomes in TREAT NL (the Netherlands), 61 items in A-STAR (UK and Ireland), 38 items in TREATgermany (Germany), 36 items in FIRST (France), 33 items in AtopyReg (Italy), 29 items in Biobadatop (Spain), 28 items in SCRATCH (Denmark) and 20 items in SwedAD (Sweden). Pooled analyses across all registries can be performed on multiple important domain items, covering the main aims of analyzing data on the (cost-)effectiveness and safety of AE therapies. These results will facilitate future comparative or joint analyses.

Published
2023
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2. Mapping exercise and status update of eight established registries within the TREatment of ATopic eczema (TREAT) Registry Taskforce

Author

Bosma, A L, Musters, A H, Bloem, M, Gerbens, L A A, Middelkamp-Hup, M A, Haufe, E, Schmitt, J, Barbarot, S, Seneschal, J, Staumont-Sallé, D, Johansson, E K, Bradley, M, von Kobyletzki, L B, Vittrup, I, Ruge, I Frier, Thyssen, Jacob P, Vestergaard, C, de Vega, M, García-Doval, I, Chiricozzi, A, Stingeni, Luca, Calzavara-Pinton, Piergiacomo, Ardern-Jones, M R, Reynolds, N J, Flohr, C, Spuls, P I, Chiricozzi, A (ORCID:0000-0002-6739-0387), Bosma, A L, Musters, A H, Bloem, M, Gerbens, L A A, Middelkamp-Hup, M A, Haufe, E, Schmitt, J, Barbarot, S, Seneschal, J, Staumont-Sallé, D, Johansson, E K, Bradley, M, von Kobyletzki, L B, Vittrup, I, Ruge, I Frier, Thyssen, Jacob P, Vestergaard, C, de Vega, M, García-Doval, I, Chiricozzi, A, Stingeni, Luca, Calzavara-Pinton, Piergiacomo, Ardern-Jones, M R, Reynolds, N J, Flohr, C, Spuls, P I, and Chiricozzi, A (ORCID:0000-0002-6739-0387)

Published
2022

3. Frontal fibrosing alopecia: a descriptive cross-sectional study of 711 cases in female patients from the UK

Author

McSweeney, SM, Christou, EAA, Dand, N, Boalch, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, HL, Patel, GK, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnil, G, Takwale, A, Rao, A, Siah, T-W, Sinclair, R, Wade, MS, Bhargava, K, Fenton, DA, McGrath, JA, Tziotzios, C, McSweeney, SM, Christou, EAA, Dand, N, Boalch, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, HL, Patel, GK, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnil, G, Takwale, A, Rao, A, Siah, T-W, Sinclair, R, Wade, MS, Bhargava, K, Fenton, DA, McGrath, JA, and Tziotzios, C

Published
2020

4. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Author

Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, JR, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, SH, Wood, K, Liu, L, Seegobin, S, Michelotti, GA, Lwin, SM, Christou, EAA, Curtis, CJ, de Rinaldis, E, Saxena, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, HL, Vano-Galvan, S, Maria Molina-Ruiz, A, Ormaechea Perez, N, Patel, GK, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnill, G, Takwale, A, Rao, A, Siah, T-W, Sinclair, R, Wade, MS, Dlova, NC, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, CM, Flohr, C, Spector, T, Watt, FM, Smith, CH, Barker, JN, Fenton, DA, Simpson, MA, McGrath, JA, Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, JR, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, SH, Wood, K, Liu, L, Seegobin, S, Michelotti, GA, Lwin, SM, Christou, EAA, Curtis, CJ, de Rinaldis, E, Saxena, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, HL, Vano-Galvan, S, Maria Molina-Ruiz, A, Ormaechea Perez, N, Patel, GK, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnill, G, Takwale, A, Rao, A, Siah, T-W, Sinclair, R, Wade, MS, Dlova, NC, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, CM, Flohr, C, Spector, T, Watt, FM, Smith, CH, Barker, JN, Fenton, DA, Simpson, MA, and McGrath, JA

Abstract

Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme. Transcriptomic analysis of affected scalp tissue highlights overrepresentation of transcripts encoding components of innate and adaptive immune response pathways. These findings provide insight into disease pathogenesis and characterise FFA as a genetically predisposed immuno-inflammatory disorder driven by HLA-B*07:02.

Published
2019

5. SJS/TEN 2017: Building multidisciplinary networks to drive science and translation

Author

White, K.D., Abe, R., Ardern-Jones, M., Beachkofsky, T., Bouchard, C., Carleton, B., Chodosh, J., Cibotti, R., Davis, R., Denny, J.C., Dodiuk-Gad, R.P., Ergen, E.N., Goldman, J.L., Holmes, J.H., Hung, S-L, Lacouture, M.E., Lehloenya, R.J., Mallal, S., Manolio, T.A., Micheletti, R.G., Mitchell, C.M., Mockenhaupt, M., Ostrov, D.A., Pavlos, R., Pirmohamed, M., Pope, E., Redwood, A., Rosenbach, M., Rosenblum, M.D., Roujeau, J-C, Saavedra, A.P., Saeed, H.N., Struewing, J.P., Sueki, H., Sukasem, C., Sung, C., Trubiano, J.A., Weintraub, J., Wheatley, L.M., Williams, K.B., Worley, B., Chung, W-H, Shear, N.H., Phillips, E.J., White, K.D., Abe, R., Ardern-Jones, M., Beachkofsky, T., Bouchard, C., Carleton, B., Chodosh, J., Cibotti, R., Davis, R., Denny, J.C., Dodiuk-Gad, R.P., Ergen, E.N., Goldman, J.L., Holmes, J.H., Hung, S-L, Lacouture, M.E., Lehloenya, R.J., Mallal, S., Manolio, T.A., Micheletti, R.G., Mitchell, C.M., Mockenhaupt, M., Ostrov, D.A., Pavlos, R., Pirmohamed, M., Pope, E., Redwood, A., Rosenbach, M., Rosenblum, M.D., Roujeau, J-C, Saavedra, A.P., Saeed, H.N., Struewing, J.P., Sueki, H., Sukasem, C., Sung, C., Trubiano, J.A., Weintraub, J., Wheatley, L.M., Williams, K.B., Worley, B., Chung, W-H, Shear, N.H., and Phillips, E.J.

Abstract

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a life-threatening, immunologically mediated, and usually drug-induced disease with a high burden to individuals, their families, and society with an annual incidence of 1 to 5 per 1,000,000. To effect significant reduction in short- and long-term morbidity and mortality, and advance clinical care and research, coordination of multiple medical, surgical, behavioral, and basic scientific disciplines is required. On March 2, 2017, an investigator-driven meeting was held immediately before the American Academy of Dermatology Annual meeting for the central purpose of assembling, for the first time in the United States, clinicians and scientists from multiple disciplines involved in SJS/TEN clinical care and basic science research. As a product of this meeting, this article summarizes the current state of knowledge and expert opinion related to SJS/TEN covering a broad spectrum of topics including epidemiology and pharmacogenomic networks; clinical management and complications; special populations such as pediatrics, the elderly, and pregnant women; regulatory issues and the electronic health record; new agents that cause SJS/TEN; pharmacogenomics and immunopathogenesis; and the patient perspective. Goals include the maintenance of a durable and productive multidisciplinary network that will significantly further scientific progress and translation into prevention, early diagnosis, and management of SJS/TEN.

Published
2018

6. SJS/TEN 2017: Building multidisciplinary networks to drive science and translation

Author

White, K.D., Abe, R., Ardern-Jones, M., Beachkofsky, T., Bouchard, C., Carleton, B., Chodosh, J., Cibotti, R., Davis, R., Denny, J.C., Dodiuk-Gad, R.P., Ergen, E.N., Goldman, J.L., Holmes, J.H., Hung, S-L, Lacouture, M.E., Lehloenya, R.J., Mallal, S., Manolio, T.A., Micheletti, R.G., Mitchell, C.M., Mockenhaupt, M., Ostrov, D.A., Pavlos, R., Pirmohamed, M., Pope, E., Redwood, A., Rosenbach, M., Rosenblum, M.D., Roujeau, J-C, Saavedra, A.P., Saeed, H.N., Struewing, J.P., Sueki, H., Sukasem, C., Sung, C., Trubiano, J.A., Weintraub, J., Wheatley, L.M., Williams, K.B., Worley, B., Chung, W-H, Shear, N.H., Phillips, E.J., White, K.D., Abe, R., Ardern-Jones, M., Beachkofsky, T., Bouchard, C., Carleton, B., Chodosh, J., Cibotti, R., Davis, R., Denny, J.C., Dodiuk-Gad, R.P., Ergen, E.N., Goldman, J.L., Holmes, J.H., Hung, S-L, Lacouture, M.E., Lehloenya, R.J., Mallal, S., Manolio, T.A., Micheletti, R.G., Mitchell, C.M., Mockenhaupt, M., Ostrov, D.A., Pavlos, R., Pirmohamed, M., Pope, E., Redwood, A., Rosenbach, M., Rosenblum, M.D., Roujeau, J-C, Saavedra, A.P., Saeed, H.N., Struewing, J.P., Sueki, H., Sukasem, C., Sung, C., Trubiano, J.A., Weintraub, J., Wheatley, L.M., Williams, K.B., Worley, B., Chung, W-H, Shear, N.H., and Phillips, E.J.

Abstract

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a life-threatening, immunologically mediated, and usually drug-induced disease with a high burden to individuals, their families, and society with an annual incidence of 1 to 5 per 1,000,000. To effect significant reduction in short- and long-term morbidity and mortality, and advance clinical care and research, coordination of multiple medical, surgical, behavioral, and basic scientific disciplines is required. On March 2, 2017, an investigator-driven meeting was held immediately before the American Academy of Dermatology Annual meeting for the central purpose of assembling, for the first time in the United States, clinicians and scientists from multiple disciplines involved in SJS/TEN clinical care and basic science research. As a product of this meeting, this article summarizes the current state of knowledge and expert opinion related to SJS/TEN covering a broad spectrum of topics including epidemiology and pharmacogenomic networks; clinical management and complications; special populations such as pediatrics, the elderly, and pregnant women; regulatory issues and the electronic health record; new agents that cause SJS/TEN; pharmacogenomics and immunopathogenesis; and the patient perspective. Goals include the maintenance of a durable and productive multidisciplinary network that will significantly further scientific progress and translation into prevention, early diagnosis, and management of SJS/TEN.

Published
2018

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