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The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017

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The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017. / van Dorland, Hendrika A; Taleghani, Magnus Mansouri; Sakai, Kazuya; Friedman, Kenneth D; George, James N; Hrachovinova, Ingrid; Knöbl, Paul N; von Krogh, Anne Sophie; Schneppenheim, Reinhard; Aebi-Huber, Isabella; Bütikofer, Lukas; Largiadèr, Carlo R; Cermakova, Zuzana; Kokame, Koichi; Miyata, Toshiyuki; Yagi, Hideo; Terrell, Deirdra R; Vesely, Sara K; Matsumoto, Masanori; Lämmle, Bernhard; Fujimura, Yoshihiro; Kremer Hovinga, Johanna A; Hereditary TTP Registry.

In: HAEMATOLOGICA, Vol. 104, No. 10, 10.2019, p. 2107-2115.

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

Harvard

van Dorland, HA, Taleghani, MM, Sakai, K, Friedman, KD, George, JN, Hrachovinova, I, Knöbl, PN, von Krogh, AS, Schneppenheim, R, Aebi-Huber, I, Bütikofer, L, Largiadèr, CR, Cermakova, Z, Kokame, K, Miyata, T, Yagi, H, Terrell, DR, Vesely, SK, Matsumoto, M, Lämmle, B, Fujimura, Y, Kremer Hovinga, JA & Hereditary TTP Registry 2019, 'The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017', HAEMATOLOGICA, vol. 104, no. 10, pp. 2107-2115. https://doi.org/10.3324/haematol.2019.216796

APA

van Dorland, H. A., Taleghani, M. M., Sakai, K., Friedman, K. D., George, J. N., Hrachovinova, I., Knöbl, P. N., von Krogh, A. S., Schneppenheim, R., Aebi-Huber, I., Bütikofer, L., Largiadèr, C. R., Cermakova, Z., Kokame, K., Miyata, T., Yagi, H., Terrell, D. R., Vesely, S. K., Matsumoto, M., ... Hereditary TTP Registry (2019). The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017. HAEMATOLOGICA, 104(10), 2107-2115. https://doi.org/10.3324/haematol.2019.216796

Vancouver

van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I et al. The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017. HAEMATOLOGICA. 2019 Oct;104(10):2107-2115. https://doi.org/10.3324/haematol.2019.216796

Bibtex

@article{8f5048ed009c496c8a1efd7f7466e35d,
title = "The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017",
abstract = "Congenital thrombotic thrombocytopenic purpura is an autosomal recessive inherited disease with a clinically heterogeneous course and an incompletely understood genotype-phenotype correlation. In 2006, the Hereditary TTP Registry started recruitment for a study which aimed to improve the understanding of this ultra-rare disease. The objective of this study is to present characteristics of the cohort until the end of 2017 and to explore the relationship between overt disease onset and ADAMTS13 activity with emphasis on the recurring ADAMTS13 c.4143_4144dupA mutation. Diagnosis of congenital thrombotic thrombocytopenic purpura was confirmed by severely deficient ADAMTS13 activity (≤10% of normal) in the absence of a functional inhibitor and the presence of ADAMTS13 mutations on both alleles. By the end of 2017, 123 confirmed patients had been enrolled from Europe (n=55), Asia (n=52, 90% from Japan), the Americas (n=14), and Africa (n=2). First recognized disease manifestation occurred from around birth up to the age of 70 years. Of the 98 different ADAMTS13 mutations detected, c.4143_4144dupA (exon 29; p.Glu1382Argfs*6) was the most frequent mutation, present on 60 of 246 alleles. We found a larger proportion of compound heterozygous than homozygous carriers of ADAMTS13 c.4143_4144dupA with overt disease onset at < 3 months of age (50% vs 37%), despite the fact that ADAMTS13 activity was <1% in 18 of 20 homozygous, but in only 8 of 14 compound heterozygous carriers. An evaluation of overt disease onset in all patients with an available sensitive ADAMTS13 activity assay (n=97) shows that residual ADAMTS13 activity is not the only determinant of age at first disease manifestation. Registered at clinicaltrials.gov identifier NCT01257269.",
author = "{van Dorland}, {Hendrika A} and Taleghani, {Magnus Mansouri} and Kazuya Sakai and Friedman, {Kenneth D} and George, {James N} and Ingrid Hrachovinova and Kn{\"o}bl, {Paul N} and {von Krogh}, {Anne Sophie} and Reinhard Schneppenheim and Isabella Aebi-Huber and Lukas B{\"u}tikofer and Largiad{\`e}r, {Carlo R} and Zuzana Cermakova and Koichi Kokame and Toshiyuki Miyata and Hideo Yagi and Terrell, {Deirdra R} and Vesely, {Sara K} and Masanori Matsumoto and Bernhard L{\"a}mmle and Yoshihiro Fujimura and {Kremer Hovinga}, {Johanna A} and {Hereditary TTP Registry}",
note = "Copyright{\textcopyright} 2019 Ferrata Storti Foundation.",
year = "2019",
month = oct,
doi = "10.3324/haematol.2019.216796",
language = "English",
volume = "104",
pages = "2107--2115",
journal = "HAEMATOLOGICA",
issn = "0390-6078",
publisher = "Ferrata Storti Foundation",
number = "10",

}

RIS

TY - JOUR

T1 - The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017

AU - van Dorland, Hendrika A

AU - Taleghani, Magnus Mansouri

AU - Sakai, Kazuya

AU - Friedman, Kenneth D

AU - George, James N

AU - Hrachovinova, Ingrid

AU - Knöbl, Paul N

AU - von Krogh, Anne Sophie

AU - Schneppenheim, Reinhard

AU - Aebi-Huber, Isabella

AU - Bütikofer, Lukas

AU - Largiadèr, Carlo R

AU - Cermakova, Zuzana

AU - Kokame, Koichi

AU - Miyata, Toshiyuki

AU - Yagi, Hideo

AU - Terrell, Deirdra R

AU - Vesely, Sara K

AU - Matsumoto, Masanori

AU - Lämmle, Bernhard

AU - Fujimura, Yoshihiro

AU - Kremer Hovinga, Johanna A

AU - Hereditary TTP Registry

N1 - Copyright© 2019 Ferrata Storti Foundation.

PY - 2019/10

Y1 - 2019/10

N2 - Congenital thrombotic thrombocytopenic purpura is an autosomal recessive inherited disease with a clinically heterogeneous course and an incompletely understood genotype-phenotype correlation. In 2006, the Hereditary TTP Registry started recruitment for a study which aimed to improve the understanding of this ultra-rare disease. The objective of this study is to present characteristics of the cohort until the end of 2017 and to explore the relationship between overt disease onset and ADAMTS13 activity with emphasis on the recurring ADAMTS13 c.4143_4144dupA mutation. Diagnosis of congenital thrombotic thrombocytopenic purpura was confirmed by severely deficient ADAMTS13 activity (≤10% of normal) in the absence of a functional inhibitor and the presence of ADAMTS13 mutations on both alleles. By the end of 2017, 123 confirmed patients had been enrolled from Europe (n=55), Asia (n=52, 90% from Japan), the Americas (n=14), and Africa (n=2). First recognized disease manifestation occurred from around birth up to the age of 70 years. Of the 98 different ADAMTS13 mutations detected, c.4143_4144dupA (exon 29; p.Glu1382Argfs*6) was the most frequent mutation, present on 60 of 246 alleles. We found a larger proportion of compound heterozygous than homozygous carriers of ADAMTS13 c.4143_4144dupA with overt disease onset at < 3 months of age (50% vs 37%), despite the fact that ADAMTS13 activity was <1% in 18 of 20 homozygous, but in only 8 of 14 compound heterozygous carriers. An evaluation of overt disease onset in all patients with an available sensitive ADAMTS13 activity assay (n=97) shows that residual ADAMTS13 activity is not the only determinant of age at first disease manifestation. Registered at clinicaltrials.gov identifier NCT01257269.

AB - Congenital thrombotic thrombocytopenic purpura is an autosomal recessive inherited disease with a clinically heterogeneous course and an incompletely understood genotype-phenotype correlation. In 2006, the Hereditary TTP Registry started recruitment for a study which aimed to improve the understanding of this ultra-rare disease. The objective of this study is to present characteristics of the cohort until the end of 2017 and to explore the relationship between overt disease onset and ADAMTS13 activity with emphasis on the recurring ADAMTS13 c.4143_4144dupA mutation. Diagnosis of congenital thrombotic thrombocytopenic purpura was confirmed by severely deficient ADAMTS13 activity (≤10% of normal) in the absence of a functional inhibitor and the presence of ADAMTS13 mutations on both alleles. By the end of 2017, 123 confirmed patients had been enrolled from Europe (n=55), Asia (n=52, 90% from Japan), the Americas (n=14), and Africa (n=2). First recognized disease manifestation occurred from around birth up to the age of 70 years. Of the 98 different ADAMTS13 mutations detected, c.4143_4144dupA (exon 29; p.Glu1382Argfs*6) was the most frequent mutation, present on 60 of 246 alleles. We found a larger proportion of compound heterozygous than homozygous carriers of ADAMTS13 c.4143_4144dupA with overt disease onset at < 3 months of age (50% vs 37%), despite the fact that ADAMTS13 activity was <1% in 18 of 20 homozygous, but in only 8 of 14 compound heterozygous carriers. An evaluation of overt disease onset in all patients with an available sensitive ADAMTS13 activity assay (n=97) shows that residual ADAMTS13 activity is not the only determinant of age at first disease manifestation. Registered at clinicaltrials.gov identifier NCT01257269.

U2 - 10.3324/haematol.2019.216796

DO - 10.3324/haematol.2019.216796

M3 - SCORING: Journal article

C2 - 30792199

VL - 104

SP - 2107

EP - 2115

JO - HAEMATOLOGICA

JF - HAEMATOLOGICA

SN - 0390-6078

IS - 10

ER -