Baseline subject characteristics
| Subject . | Gender . | Age, y . | VWD gene mutation . | Mutation location exon/domain . | |
|---|---|---|---|---|---|
| Nucleotide substitution . | Amino acid substitution . | ||||
| 1 | M | 27 | IVS4-7del7bp_ins13bp/c.2438dupG | splice/p.M814HfsX5 | 18/D′ |
| 2*† | F | 45 | c.7603C>T/c.7603C>T | p.R2535X/p.R2535X | 45/C2 |
| 3 | M | 38 | c.311_312delAG/c.2771G>A | p.Q104RfsX19/p.R924Q | 5/D1; 21/D3 |
| 4 | M | 26 | c.2879G>C/c.7352G>A | p.R960P/p.C2451Y | 21/D3; 43/C1 |
| 5*‡ | M | 47 | c.1147G>T/c.1147G>T | p.E383X/p.E383X | 11/D2 |
| 6 | M | 57 | c.1147G>T/c.1147G>T | p.E383X/p.E383X | 11/D2 |
| 7 | F | 60 | c.8419_8422dupTCCC/c.8419_8422dupTCCC | p.P2808LfsX24/p.P2808LfsX24 | 52/CK |
| 8 | M | 19 | c.8419_8422dupTCCC/c.8419_8422dupTCCC | p.P2808LfsX24/p.P2808LfsX24 | 52/CK |
| 9 | F | 18 | c.1130G>A/c.2516delG | p.W377X/p.G839EfsX4 | 10/D1 |
| 10 | M | 52 | c.2435delC/c.2435delC | p.P812RfsX31/p.P812RfsX31 | 18/D′ |
| 11 | M | 39 | c.1047delC/c.2900G>A/c.8322C>G | p.C350AfsX107/p.G967D/p.C2774W | 10/D1; 21/D3; 52/CK |
| 12 | M | 26 | c.2157delA/IVS45+7C>T | p.D720TfsX21/splice | 16/D2 |
| 13 | F | 37 | c.7085G>T/c.7603C>T | p.C2362F/p.R2535X | 42/C1; 45/C2 |
| 14 | F | 34 | c.1751 C>T + 729_735OLEE | p.C584F + 1366X | 15/D2 |
| 15 | M | 38 | IVS40+1G>T/c.1147G>T | splice/p.E383X | 10/D1 |
| 16 | F | 21 | 1VS 13 + 1G>T/IVS13 +1 G>T | splice/splice | — |
| 17 | F | 32 | c. 6222insAACC/c.6911G>A | NA/p.C2304Y | 36/D4; 40/B1-2 |
| 18 | M | 26 | c.2435delC/IVS28N+3AX | p.812RfsX31/splice | 18/D′ |
| 19 | F | 46 | c.2435delC/c.2435delC | p.P812RfsX31/p.P812RfsX31 | 18/D′ |
| 20 | F | 28 | c.2753C>G | p.S918X | 21/D3 |
| 21*§ | F | 23 | c.8419_8422dupTCCC/c.8419_8422dupTCCC | p.P2808LfsX24/p.P2808LfsX24 | 52/CK |
| 22*‡ | F | 22 | c.8241_8249del9bp/c.8241_8249del9bp | p.2748delHisTyrCys/p.2748delHisTyrCys | 52/CK |
| 23*§|| | M | 19 | c.6790C>T/c.6790C>T | p.Q2264X/p.Q2264X | 38/D4 |
| Subject . | Gender . | Age, y . | VWD gene mutation . | Mutation location exon/domain . | |
|---|---|---|---|---|---|
| Nucleotide substitution . | Amino acid substitution . | ||||
| 1 | M | 27 | IVS4-7del7bp_ins13bp/c.2438dupG | splice/p.M814HfsX5 | 18/D′ |
| 2*† | F | 45 | c.7603C>T/c.7603C>T | p.R2535X/p.R2535X | 45/C2 |
| 3 | M | 38 | c.311_312delAG/c.2771G>A | p.Q104RfsX19/p.R924Q | 5/D1; 21/D3 |
| 4 | M | 26 | c.2879G>C/c.7352G>A | p.R960P/p.C2451Y | 21/D3; 43/C1 |
| 5*‡ | M | 47 | c.1147G>T/c.1147G>T | p.E383X/p.E383X | 11/D2 |
| 6 | M | 57 | c.1147G>T/c.1147G>T | p.E383X/p.E383X | 11/D2 |
| 7 | F | 60 | c.8419_8422dupTCCC/c.8419_8422dupTCCC | p.P2808LfsX24/p.P2808LfsX24 | 52/CK |
| 8 | M | 19 | c.8419_8422dupTCCC/c.8419_8422dupTCCC | p.P2808LfsX24/p.P2808LfsX24 | 52/CK |
| 9 | F | 18 | c.1130G>A/c.2516delG | p.W377X/p.G839EfsX4 | 10/D1 |
| 10 | M | 52 | c.2435delC/c.2435delC | p.P812RfsX31/p.P812RfsX31 | 18/D′ |
| 11 | M | 39 | c.1047delC/c.2900G>A/c.8322C>G | p.C350AfsX107/p.G967D/p.C2774W | 10/D1; 21/D3; 52/CK |
| 12 | M | 26 | c.2157delA/IVS45+7C>T | p.D720TfsX21/splice | 16/D2 |
| 13 | F | 37 | c.7085G>T/c.7603C>T | p.C2362F/p.R2535X | 42/C1; 45/C2 |
| 14 | F | 34 | c.1751 C>T + 729_735OLEE | p.C584F + 1366X | 15/D2 |
| 15 | M | 38 | IVS40+1G>T/c.1147G>T | splice/p.E383X | 10/D1 |
| 16 | F | 21 | 1VS 13 + 1G>T/IVS13 +1 G>T | splice/splice | — |
| 17 | F | 32 | c. 6222insAACC/c.6911G>A | NA/p.C2304Y | 36/D4; 40/B1-2 |
| 18 | M | 26 | c.2435delC/IVS28N+3AX | p.812RfsX31/splice | 18/D′ |
| 19 | F | 46 | c.2435delC/c.2435delC | p.P812RfsX31/p.P812RfsX31 | 18/D′ |
| 20 | F | 28 | c.2753C>G | p.S918X | 21/D3 |
| 21*§ | F | 23 | c.8419_8422dupTCCC/c.8419_8422dupTCCC | p.P2808LfsX24/p.P2808LfsX24 | 52/CK |
| 22*‡ | F | 22 | c.8241_8249del9bp/c.8241_8249del9bp | p.2748delHisTyrCys/p.2748delHisTyrCys | 52/CK |
| 23*§|| | M | 19 | c.6790C>T/c.6790C>T | p.Q2264X/p.Q2264X | 38/D4 |
Subjects had nonneutralizing anti-VWF–binding antibody titer while on treatment.
Subject had a specific nonneutralizing anti-VWF–binding antibody titer (1/640) at termination, following treatment with pdVWF-pfFVIII.
Subjects had an unspecific titer (<1:40) for nonneutralizing anti-VWF–binding antibodies (only a titer of 1:80 or above could be confirmed in the competition assay).
Subjects had a preexisting, specific nonneutralizing anti-VWF–binding high antibody titer (1/1280) at screening.
All subjects shown in this table, except #23, had VWD type 3 and were in the randomized crossover PK cohort. Subject 23 had VWD type 1 and received rVWF-rFVIII with 20 IU/kg VWF:RCo; however, baseline characteristics are of interest for this subject due to his preexisting anti-VWF–binding antibodies.