Belgian study into von Willebrand Disease (B-Will): First results
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1 Belgian study into von Willebrand Disease (B-Will): First results Inge Vangenechten VWD Research Unit, Antwerp University Hospital Supported by CSL Behring Chair in von Willebrand Disease, Antwerp University
2 Aim of the study Multicenter study Family based characterisation of VWD in Belgium (pop.11,2million) Patients with suspected or known VWD based on historical laboratory analysis Grouped into families Inclusion of proband and affected sibling or parent Formation of DNA & Plasma bank for future research into VWD Based upon Brno-VWD Study Final version study protocol 12/2011 Start patient sampling accrual 01/2012
3 Pop million
4 Inclusion of patients by participating hospitals Identification of eligible patients Informed consent Blood sampling Platelet Function Assay (PFA) Antwerp University Hospital Full laboratory analysis (FVIII:c, VWF:Ag, VWF:GPIbM, VWF:CB, VWFpp, and VWF-FVIII binding where indicated) VWF multimers (cfr Budde, Hamburg) Molecular analysis (gene sequencing & MLPA)
5 patients suspected of having VWD (proband): Type 3: VWF:Ag and VWF:RCo or equivalent functional test <5% Type 2: Decreased Ristocetin Induced Platelet Aggregometry RIPA (concentration mg/dl) and/or VWF:RCo/VWF:Ag < 0.7 (type 2A/2M) or unexplained thrombocytopenia where there is a suspicion of VWD and/or positive low concentration RIPA (0.8mg/ml) (type 2B) Or all patients with VWF:CB/VWF:Ag ratio < 0.7 (type 2A, Collagen type) Or FVIII:c/VWF:Ag <0.5 (type 2N) Type 1: VWF:Ag< 35% type 1 patients with VWF:Ag levels >35% can only be included with severe phenotype
6 127 patients in 77 families Median CI95 Range FVIII:c (%) VWF:Ag (%) VWF:GPIbM (%) VWF:CB (%) VWFpp (%) entire lab analysis finished 24 samples for multimer analysis to do molecular analysis completed for 36 families UZA non- UZA
7 Patients Type Families (%) Samples (%) remarks Type 1 45 (58.4) 77 (62.6) 1 type 1 Vicenza Type 3-5 (4) (all in type 1 families) Type 2A 16 (20.8) 19 (15.2) 2A/IIA 3 (3.9) 3 (2.4) 2A/IIC 1 (1.3) 1 (0.8) 2A/IIE 8 (10.3) 10 (8.1) 2A/U 4 (5.2) 5 (3.9) Type 2B - - Type 2M 10 (13) 11 (8.9) IIA 2.4% IIC 0.8% IIE 8.1% Type 2N 1 (1.3) 1 (0.8) 5 carriers Type 2M 8.9% Type 2N 0.8% Type 2A 15.2% Type 3 4% Type %
8 Mutations 28 unique mutations in 55/127 patients in 36/77 families (10 new) i exon
9 c g/a p.r1205h/c.3614g>a p.i1425f/c.4273a>t p.t2666m / c.7997t>c p.t346i/c.1037c>t p.n1231t/c.3692a>c p.y1584c/c.4751a>g p.c623w/c.1869c>g p.p1266l/c.3797c/t Del exon p.p691qfs X50/c.2072delC p.l1278r/c.3833t>g c g/c p.r854q/c.2561g>a p.l1288r /c.3863t>g p.g2035_m2038del p.r924q/c.2771g>a p.q1311x/c.3931c>t p.c2184y/c.6551g>a p.w1120s/c.3359g>c p.r1315c/c.3943c>t p.c2304y/c.6911g>a p.c1190y/c.3568t>g p.g1324s/c.3970g>a p.p2460fsx60/c.7377_7393dup17 p.c1190r/c.3568t>c p.l1382q/c.4145t>a Del exon 47 * D1 D2 D D3 A1 A2 A3 D4 B C1 C2 CK exon SP Propeptide mature VWF
10 Mutation Fam Pts Mutation Fam Pts p.y1584c/c.4751a>g 6 7 p.c1190y/c.3568t>g* 1 1 p.c1190r/c.3568t>c 3 5 p.r1205h/c.3614g>a 1 1 p.l1288r /c.3863t>g 3 4 p.n1231t/c.3692a>c 1 1 p.w1120s/c.3359g>c 2 4 p.p1266l/c.3797c/t 1 1 c g/c* 1 4 p.l1278r/c.3833t>g* 1 1 c g/a 1 3 p.q1311x/c.3931c>t 1 1 p.p2460fsx60/c.7377_7393dup p.g1324s/c.3970g>a 1 1 p.r924q/c.2771g>a 2 2 p.l1382q/c.4145t>a* 1 1 p.r1315c/c.3943c>t 1 2 p.i1425f/c.4273a>t 1 1 p.c2184y/c.6551g>a* 1 2 p.g2035_m2038del* 1 1 p.t346i/c.1037c>t* 1 1 p.c2304y/c.6911g>a 1 1 p.c623w/c.1869c>g 1 1 p.t2666m/c.7997t>c* 1 1 p.r854q/c.2561g>a 1 1 deletion ex.33-34* 1 1 p.p691qfsx50/c.2072delc 1 1 deletion ex47* 1 1 (*new mutation)
11 p.y1584c/c.4751a>g (type 1; ex28) p.c1190r/c.3568t>c (type 2A/IIE; ex27) p.l1288r/c.3863t>g (type 2M; ex28) p.w1120s/c.3359g>c (type 2A/IIE; ex25)
12 10 new mutationsà Awaiting expression studies Exon 9: p.t346i/c.1037c>t type 1 Exon 27: p.c1190y/c.3568t>g type 1 Exon 28: p.l1278r/c.3833t>g type 2M Exon 28: p.l1382q/c.4145t>a type 1 Exon 33-34: heterozygous deletion type 1 Intron 33: c g/c type 1 Exon 35: p.g2035_m2038del / c.6104_6115delgtgggaaca type 1 Exon 37: p.c2184y/c.6551g>a type 1 Exon 47: heterozygous deletion type 1 Exon 49: p.t2666m/c.7997t>c type 2A/IIA
13 Linkage (preliminary data) VWD type Mutations/pts percentage 1 24/ % 2 21/ % 2A 13/ % 2B - - 2M 7/ % 2N 1/1 100% 3 3/5 60%
14 p.p812rfs(x31) / c.2435delc p.y1584c/c.4751a>g p.w1120s/c.3359g>c p.l1288r /c.3863t>g p.c623w/c.1869c>g p.l1278r/c.3833t>g p.c2304y/c.6911g>a p.c1190r/c.3568t>c p g>a c g/c p.g2035_m2038del p.pro2460fsx60 p.r854q/c.2561g>a p.c1190y/c.3568g>a p.r1205h/c.3614g>a p.p1266l/c.3797c/t p.q1311x/c.3931c>t p.g1324s/c.3970g>a p.p924q/c.2771g>a p.r1315c/c.3943c>t p.c2184y/c.6551g>a p.t346i/c.1037c>t p.p691qfsx50/c.2072delc p.n1231t/c.3692a>c p.l1382q/c.4145t>a p.i1425f/c.4273a>t p.t2666m/c.7997t>c Deletion exon Deletion exon 47 No Åland mutation in Belgium in both countries; p.y1584c/c.4751a>g (1) p.r1205h / c.3614g>a (type1vicenza) p.p1266l/c.3797c>t (1) p.p924q/c.2771g>a (1/2N/polym?) p. R854Q /c.2561g>a (2N) p.y1584c / c.4751a>g p.g1579r / c.4735g>a p.r854q / c.2561g>a p.r924q/c.2771g>a p.s979n / c. 2936G>A p.w1144g / c.3430t>g p.n166i / c.497a>t p.e1359k / c.4075g>a p.d1691e / c.5073c>a p.p1266l / c.3797c>t p.v1279i / c.3835g>a p.v1760i / c.5278g>a p.c996s/c.2987g>c p.r1306w / c.3916c>t p.g39k / c.115g>a p.d47v / c.140a>t p.s49r / c.147c>g p.e197k / c.587g>a p.v343m / c.1027g>a p.a631r / c.1891c>a p.y1146c / c.3437a>g p.r1205h / c.3614g>a p.r1308c / c.3922c>t p.r1341w / c.4021c>t p.g1415d / c.4244g>a p.t1728s / c.5182a>t p.r1830c / c.5488 C>T p.g1890e / c.5669g>a p.s2179f / c.6536c>t p.s1024fs/c.3072delc p.c1130g / c.3388t>g p.c1130r / c. 3388T>C p.a1250d / c.3749c>a p.r1341q / c.4022g>a p.g1609r / c.4825g>a p.r1853x/c.5557c>t p.p2063s / c.6187c/t
15 Planning Continue samples UZA Stimulate accrual from participating centres Include other regional hospitals : St Jan Brugge, Jessa Hasselt, Laboratory planning Continue laboratory work Start up expression studies Correlation Brno UZA non- UZA
16 Participating centres UZ Antwerpen UZ Gent UZ Brussel ULB Erasme ULB HUDERF ULB Brugmann CHR de la Citadelle, Liège CHU Sart Tilman, Liège CHC Saint Joseph, Liège CHU de Charleroi, Hôpital Vésale CH Jolimont-Lobbes
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