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Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural)

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Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural). / Shapiro, Amy D; Ragni, Margaret V; Borhany, Munira; Abajas, Yasmina L; Tarantino, Michael D; Holstein, Katharina; Croteau, Stacy E; Liesner, Riana; Tarango, Cristina; Carvalho, Manuela; McGuinn, Catherine; Funding, Eva; Kempton, Christine L; Bidlingmaier, Christoph; Cohen, Alice; Oldenburg, Johannes; Kearney, Susan; Knoll, Christine; Kuriakose, Philip; Acharya, Suchitra; Reiss, Ulrike M; Kulkarni, Roshni; Witkop, Michelle; Lethagen, Stefan; Donfield, Sharyne; LeBeau, Petra; Berntorp, Erik; Astermark, Jan.

In: HAEMOPHILIA, Vol. 27, No. 1, 01.2021, p. 49-59.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Shapiro, AD, Ragni, MV, Borhany, M, Abajas, YL, Tarantino, MD, Holstein, K, Croteau, SE, Liesner, R, Tarango, C, Carvalho, M, McGuinn, C, Funding, E, Kempton, CL, Bidlingmaier, C, Cohen, A, Oldenburg, J, Kearney, S, Knoll, C, Kuriakose, P, Acharya, S, Reiss, UM, Kulkarni, R, Witkop, M, Lethagen, S, Donfield, S, LeBeau, P, Berntorp, E & Astermark, J 2021, 'Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural)', HAEMOPHILIA, vol. 27, no. 1, pp. 49-59. https://doi.org/10.1111/hae.14139

APA

Shapiro, A. D., Ragni, M. V., Borhany, M., Abajas, Y. L., Tarantino, M. D., Holstein, K., Croteau, S. E., Liesner, R., Tarango, C., Carvalho, M., McGuinn, C., Funding, E., Kempton, C. L., Bidlingmaier, C., Cohen, A., Oldenburg, J., Kearney, S., Knoll, C., Kuriakose, P., ... Astermark, J. (2021). Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural). HAEMOPHILIA, 27(1), 49-59. https://doi.org/10.1111/hae.14139

Vancouver

Shapiro AD, Ragni MV, Borhany M, Abajas YL, Tarantino MD, Holstein K et al. Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural). HAEMOPHILIA. 2021 Jan;27(1):49-59. https://doi.org/10.1111/hae.14139

Bibtex

@article{b69523e32b1d45c7aba9c1670b02aca8,
title = "Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural)",
abstract = "INTRODUCTION: Haemophilia B (HB) is less well studied than haemophilia A (HA); despite similarities between the two inherited bleeding disorders, important differences remain that require further research.AIM: B-Natural is a multi-centre, prospective, observational study of HB, designed to increase understanding of clinical manifestations, treatment, quality-of-life (QoL), inhibitor development, immune tolerance induction (ITI) outcome, renal function and create a biorepository for future investigations.METHODS: Participants include sibling pairs/groups without a current/history of inhibitors and singletons or siblings with a current/history of inhibitors followed for six months. Demographics, medical, social history and treatment were recorded. A physical examination including joint range of motion (ROM) was performed; QoL was assessed. Samples were collected for F9 gene mutation, HLA typing, non-inhibitory antibodies and renal function testing.RESULTS: Twenty-four centres enrolled 224 individuals from 107 families including 29 with current/history of inhibitors. Of these, 68, 30.4%, had severe (<1% FIX level of normal); 114, 50.9%, moderate (1%-5%); and 42, 18.8%, mild (>5-<40%) disease. At enrolment, 53.1% had 50 + exposure days to exogenous FIX. Comparison of joint scores showed significant (P < .05) differences between those with severe (with/without inhibitors), and those with moderate/mild disease. The majority with severe disease, 80.0% with current/history of inhibitors and 64.3% of those without, were treated with prophylaxis.CONCLUSION: B-Natural provides data supporting an increased understanding of HB and its impact throughout life. The need for optimal disease control to normalize physical and psychosocial outcomes is underscored, and further analyses will contribute to an increased understanding of critical issues in HB.",
author = "Shapiro, {Amy D} and Ragni, {Margaret V} and Munira Borhany and Abajas, {Yasmina L} and Tarantino, {Michael D} and Katharina Holstein and Croteau, {Stacy E} and Riana Liesner and Cristina Tarango and Manuela Carvalho and Catherine McGuinn and Eva Funding and Kempton, {Christine L} and Christoph Bidlingmaier and Alice Cohen and Johannes Oldenburg and Susan Kearney and Christine Knoll and Philip Kuriakose and Suchitra Acharya and Reiss, {Ulrike M} and Roshni Kulkarni and Michelle Witkop and Stefan Lethagen and Sharyne Donfield and Petra LeBeau and Erik Berntorp and Jan Astermark",
note = "{\textcopyright} 2020 John Wiley & Sons Ltd.",
year = "2021",
month = jan,
doi = "10.1111/hae.14139",
language = "English",
volume = "27",
pages = "49--59",
journal = "HAEMOPHILIA",
issn = "1351-8216",
publisher = "Wiley-Blackwell",
number = "1",

}

RIS

TY - JOUR

T1 - Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural)

AU - Shapiro, Amy D

AU - Ragni, Margaret V

AU - Borhany, Munira

AU - Abajas, Yasmina L

AU - Tarantino, Michael D

AU - Holstein, Katharina

AU - Croteau, Stacy E

AU - Liesner, Riana

AU - Tarango, Cristina

AU - Carvalho, Manuela

AU - McGuinn, Catherine

AU - Funding, Eva

AU - Kempton, Christine L

AU - Bidlingmaier, Christoph

AU - Cohen, Alice

AU - Oldenburg, Johannes

AU - Kearney, Susan

AU - Knoll, Christine

AU - Kuriakose, Philip

AU - Acharya, Suchitra

AU - Reiss, Ulrike M

AU - Kulkarni, Roshni

AU - Witkop, Michelle

AU - Lethagen, Stefan

AU - Donfield, Sharyne

AU - LeBeau, Petra

AU - Berntorp, Erik

AU - Astermark, Jan

N1 - © 2020 John Wiley & Sons Ltd.

PY - 2021/1

Y1 - 2021/1

N2 - INTRODUCTION: Haemophilia B (HB) is less well studied than haemophilia A (HA); despite similarities between the two inherited bleeding disorders, important differences remain that require further research.AIM: B-Natural is a multi-centre, prospective, observational study of HB, designed to increase understanding of clinical manifestations, treatment, quality-of-life (QoL), inhibitor development, immune tolerance induction (ITI) outcome, renal function and create a biorepository for future investigations.METHODS: Participants include sibling pairs/groups without a current/history of inhibitors and singletons or siblings with a current/history of inhibitors followed for six months. Demographics, medical, social history and treatment were recorded. A physical examination including joint range of motion (ROM) was performed; QoL was assessed. Samples were collected for F9 gene mutation, HLA typing, non-inhibitory antibodies and renal function testing.RESULTS: Twenty-four centres enrolled 224 individuals from 107 families including 29 with current/history of inhibitors. Of these, 68, 30.4%, had severe (<1% FIX level of normal); 114, 50.9%, moderate (1%-5%); and 42, 18.8%, mild (>5-<40%) disease. At enrolment, 53.1% had 50 + exposure days to exogenous FIX. Comparison of joint scores showed significant (P < .05) differences between those with severe (with/without inhibitors), and those with moderate/mild disease. The majority with severe disease, 80.0% with current/history of inhibitors and 64.3% of those without, were treated with prophylaxis.CONCLUSION: B-Natural provides data supporting an increased understanding of HB and its impact throughout life. The need for optimal disease control to normalize physical and psychosocial outcomes is underscored, and further analyses will contribute to an increased understanding of critical issues in HB.

AB - INTRODUCTION: Haemophilia B (HB) is less well studied than haemophilia A (HA); despite similarities between the two inherited bleeding disorders, important differences remain that require further research.AIM: B-Natural is a multi-centre, prospective, observational study of HB, designed to increase understanding of clinical manifestations, treatment, quality-of-life (QoL), inhibitor development, immune tolerance induction (ITI) outcome, renal function and create a biorepository for future investigations.METHODS: Participants include sibling pairs/groups without a current/history of inhibitors and singletons or siblings with a current/history of inhibitors followed for six months. Demographics, medical, social history and treatment were recorded. A physical examination including joint range of motion (ROM) was performed; QoL was assessed. Samples were collected for F9 gene mutation, HLA typing, non-inhibitory antibodies and renal function testing.RESULTS: Twenty-four centres enrolled 224 individuals from 107 families including 29 with current/history of inhibitors. Of these, 68, 30.4%, had severe (<1% FIX level of normal); 114, 50.9%, moderate (1%-5%); and 42, 18.8%, mild (>5-<40%) disease. At enrolment, 53.1% had 50 + exposure days to exogenous FIX. Comparison of joint scores showed significant (P < .05) differences between those with severe (with/without inhibitors), and those with moderate/mild disease. The majority with severe disease, 80.0% with current/history of inhibitors and 64.3% of those without, were treated with prophylaxis.CONCLUSION: B-Natural provides data supporting an increased understanding of HB and its impact throughout life. The need for optimal disease control to normalize physical and psychosocial outcomes is underscored, and further analyses will contribute to an increased understanding of critical issues in HB.

U2 - 10.1111/hae.14139

DO - 10.1111/hae.14139

M3 - SCORING: Journal article

C2 - 33278853

VL - 27

SP - 49

EP - 59

JO - HAEMOPHILIA

JF - HAEMOPHILIA

SN - 1351-8216

IS - 1

ER -