glycine and von Willebrand Diseases studies

von Willebrand Diseases: Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.

Research Excerpts

Excerpt	Relevance	Reference
"Platelet-type von Willebrand disease (plt-VWD) is a congenital bleeding disorder characterized by gain-of-function mutations of GPIbalpha."	1.32	Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. ( Ikeda, Y; Matsubara, Y; Murata, M; Sugita, K, 2003)
"Type 2A is a qualitative variant of von Willebrand disease (vWD) characterized by a reduced platelet-dependent function, associated with an absence of large multimers."	1.30	Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease. ( Aznar, JA; Casaña, P; Haya, S; Martínez, F, 1999)
"Platelet-type von Willebrand disease (PT-vWD) is an autosomal dominant bleeding disorder in which patient platelets exhibit an abnormally increased binding of circulating von Willebrand factor (vWF)."	1.28	Conformational energy analysis of the substitution of Val for Gly 233 in a functional region of platelet GPIb alpha in platelet-type von Willebrand disease. ( Carty, RP; Dykes, DC; Miller, JL; Pincus, MR, 1991)
"Treatment of von Willebrand disease with two plasma antihemophilic factor (AHF) concentrates, cryoprecipitate and glycine-precipitated AHF, was compared."	1.26	Antihemophilic factor concentrate therapy in von Willebrand disease. Dissociation of bleeding-time factor and ristocetin-cofactor activities. ( Blatt, PM; Brinkhous, KM; Culp, HR; Krauss, JS; Roberts, HR, 1976)

Research

Studies (13)

Authors

Clinical Trials (1)

Trial Overview

Trial Outcomes

Centralized Factor VIII (FVIII) Amidolytic Activity (FVIII:Am) Laboratory Test for Type 3 Von Willebrand's Disease (VWD3) Diagnosis

Timeframe	Studies, this research(%)	All Research%
pre-1990	4 (30.77)	18.7374
1990's	7 (53.85)	18.2507
2000's	2 (15.38)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors	Studies
Matsubara, Y	1
Murata, M	2
Sugita, K	1
Ikeda, Y	1
Nurden, P	1
Lanza, F	1
Bonnafous-Faurie, C	1
Nurden, A	1
Donnér, M	1
Kristoffersson, AC	1
Berntorp, E	1
Scheibel, E	1
Thorsen, S	1
Dahlbäck, B	1
Nilsson, IM	1
Holmberg, L	1
Russell, SR	1
Ruggeri, ZM	1
Ware, J	1
Hagiwara, T	1
Inaba, H	1
Yoshida, S	1
Nagaizumi, K	1
Arai, M	1
Hanabusa, H	1
Fukutake, K	1
Gu, J	1
Jorieux, S	1
Lavergne, JM	1
Ruan, C	1
Mazurier, C	1
Meyer, D	1
Song, KS	1
Kang, SH	1
Kang, MS	1
Park, YS	1
Choi, JR	1
Kim, HK	1
Park, Q	1
Casaña, P	1
Martínez, F	1
Haya, S	1
Aznar, JA	1
Legaz, ME	1
Weinstein, MJ	1
Heldebrant, CM	1
Davie, EW	1
Blatt, PM	1
Brinkhous, KM	1
Culp, HR	1
Krauss, JS	1
Roberts, HR	1
Pincus, MR	1
Dykes, DC	1
Carty, RP	1
Miller, JL	1
Rossman, RE	1
Brody, JI	1
Breckenridge, RT	1
Ratnoff, OD	1

Trial	Phase	Enrollment	Study Type	Start Date	Status
Type 3 Von Willebrand International Registries Inhibitor Prospective Study[NCT02460458]		265 participants (Actual)	Observational	2012-11-05	Active, not recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Measurement of Factor VIII (FVIII) Amidolytic Activity (FVIII:Am) in the blood through chromogenic test. Only patients with FVIII:Am less or equal to 5 IU/dL were considered for the analysis. (NCT02460458)
Timeframe: 12 months (confirmatory phase)

Centralized Factor VIII (FVIII) Antigen (FVIII:Ag) Laboratory Test for Type 3 Von Willebrand's Disease (VWD3) Diagnosis

Intervention	IU/dL (Mean)
Type 3 Von Willebrand's Disease (VWD3)	1.63

Measurement of the amount of Factor VIII (FVIII) protein in the blood through FVIII:Ag test. Only patients with FVIII:Ag less or equal to 5 IU/dL were considered for the analysis. (NCT02460458)
Timeframe: 12 months (confirmatory phase)

Centralized Factor VIII (FVIII) Procoagulant Activity (FVIII:C) Laboratory Test for Type 3 Von Willebrand's Disease (VWD3) Diagnosis

Intervention	IU/dL (Mean)
Type 3 Von Willebrand's Disease (VWD3)	3.64

Measurement of the Factor VIII (FVIII) Procoagulant Activity (FVIII:C) in the blood through one-stage clotting test. Only patients with FVIII:C less or equal to 5 IU/dL were considered for the analysis. (NCT02460458)
Timeframe: 12 months (confirmatory phase)

Centralized Von Willebrand Factor (VWF) Propeptide Laboratory Test for Type 3 Von Willebrand's Disease (VWD3) Diagnosis

Intervention	IU/dL (Mean)
Type 3 Von Willebrand's Disease (VWD3)	2.43

Measurement of Von Willebrand Factor (VWF) Propeptide levels in the blood through VWF Propeptide test. (NCT02460458)
Timeframe: 12 months (confirmatory phase)

Centralized Von Willebrand Factor Antigen (VWF:Ag) Laboratory Test for Type 3 Von Willebrand's Disease (VWD3) Diagnosis

Intervention	IU/dL (Mean)
Type 3 Von Willebrand's Disease (VWD3)	7.3

Measurement of the amount of Von Willebrand Factor (VWF) protein in the blood through Von Willebrand Factor Antigen (VWF:Ag) test. Only patients with VWF:Ag less or equal to 5 IU/dL were considered for the analysis. (NCT02460458)
Timeframe: 12 months (confirmatory phase)

Local Laboratory Tests for Type 3 Von Willebrand's Disease (VWD3) Diagnosis (Composite)

Intervention	IU/dL (Mean)
Type 3 Von Willebrand's Disease (VWD3)	1.29

"Number of patients for who the following tests have been performed:~Hemoglobin (mmol/L), Hemagglutination Titer (HT) (%), Mean Corpuscular Volume (MVC) (fl), Leucocytes (E9/L), Neutrophils (%), Basophils (%), Eosinophils (%), Lymphocytes (%), Platelet Count (E9/L), Mean Platelet Volume (MPV) (fl), Prothrombin Time (sec), Partial Thromboplastin Time (PTT) (sec), Partial Thromboplastin Time Mix 50:50 (PTT mix 50:50) (sec), Ferritin (ug/l), Bleeding Time (min:sec), Closure Time (sec), Collagen/ADP (sec), Collagen/Epinephrine (sec); Factor VIII Procoagulant Activity (FVIII:C) (IU/mL), Von Willebrand Factor Ristocetin Cofactor (VWF:RCo) (IU/mL), Won Willebrand Factor Antigen (VWF:Ag) (IU/mL)." (NCT02460458)
Timeframe: 24 months (retrospective phase)

Number of Patients With Available Local Laboratory Test for Anti-Von Willebrand Factor (Anti-VWF) Antibodies

Intervention	Participants (Count of Participants)
Type 3 Von Willebrand's Disease (VWD3)	265

Evaluation of the titre of Anti-Von Willebrand Factor (anti-VWF) Antibodies through Bethesda Test. (NCT02460458)
Timeframe: 24 months (retrospective phase)

Patients Experiencing Allergic Reactions During Use of Von Willebrand Factor (VWF)-Containing Concentrates

Intervention	Participants (Count of Participants)
Type 3 Von Willebrand's Disease (VWD3)	4

Record of any allergic and anaphylactic reactions occurred in the past due to the use of any Von Willebrand Factor (VWF) concentrate and the date of onset. (NCT02460458)
Timeframe: 24 months (retrospective phase)

Number of Participants With Previous Use of Blood Products

Intervention	Participants (Count of Participants)
Type 3 Von Willebrand's Disease (VWD3)	41

Record of any product used during the retrospective phase (collected type of blood products/Von Willebrand Factor (VWF) concentrate, year of first exposure, units used). (NCT02460458)
Timeframe: 24 months (retrospective phase)

Article	Year
Isolation, subunit structure, and proteolytic modification of bovine factor VIII. Annals of the New York Academy of Sciences, 1975, Jan-20, Volume: 240 Topics: Aminocaproates; Anticoagulants; Blood Coagulation Tests; Calcium; Carbohydrates; Cellulose; Chromato	1975
Therapy of hereditary disorders of blood coagulation. Modern treatment, 1968, Volume: 5, Issue:1 Topics: Abdomen, Acute; Afibrinogenemia; Blood Coagulation Disorders; Blood Transfusion; Cerebral Hemorrhage	1968

Article	Year
Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. Journal of thrombosis and haemostasis : JTH, 2003, Volume: 1, Issue:10 Topics: Bleeding Time; Blood Platelets; Blood Proteins; Cell Line; Child, Preschool; Dose-Response Relations	2003
A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. Thrombosis and haemostasis, 2007, Volume: 97, Issue:2 Topics: Adult; Blood Platelet Disorders; Blood Platelets; Female; Glycine; Humans; Mutation; Platelet Functi	2007
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor. European journal of haematology, 1993, Volume: 51, Issue:1 Topics: Adolescent; Adult; Alleles; Amino Acid Sequence; Arginine; Base Sequence; Child; Cysteine; DNA; Fema	1993
Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. The Journal of clinical investigation, 1993, Volume: 91, Issue:5 Topics: Amino Acid Sequence; Animals; Blood Platelets; CHO Cells; Cricetinae; Crotalid Venoms; Genetic Varia	1993
A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease. Thrombosis and haemostasis, 1996, Volume: 76, Issue:2 Topics: Arginine; Asian People; Case-Control Studies; DNA; DNA Mutational Analysis; Exons; Glycine; Homozygo	1996
A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies. Blood, 1997, May-01, Volume: 89, Issue:9 Topics: Adult; Aged; Alleles; Animals; Antibodies, Monoclonal; COS Cells; DNA Primers; Exons; Female; Geneti	1997
von Willebrand disease with G4022A mutation (vWd Sungnam): a case report. Journal of Korean medical science, 1999, Volume: 14, Issue:1 Topics: Alanine; Child; Glycine; Humans; Male; Point Mutation; von Willebrand Diseases; von Willebrand Facto	1999
Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease. American journal of hematology, 1999, Volume: 60, Issue:4 Topics: Arginine; Base Sequence; Deoxyribonucleases, Type II Site-Specific; Female; Glycine; Humans; Male; M	1999
Antihemophilic factor concentrate therapy in von Willebrand disease. Dissociation of bleeding-time factor and ristocetin-cofactor activities. JAMA, 1976, Dec-13, Volume: 236, Issue:24 Topics: Antigens; Blood Coagulation Disorders; Blood Coagulation Tests; Chemical Precipitation; Factor VIII;	1976
Conformational energy analysis of the substitution of Val for Gly 233 in a functional region of platelet GPIb alpha in platelet-type von Willebrand disease. Biochimica et biophysica acta, 1991, Sep-23, Volume: 1097, Issue:2 Topics: Amino Acid Sequence; Blood Platelets; Computer Simulation; Glycine; Humans; Macromolecular Substance	1991
Reactivity to factor-VIII concentrates of lymphocytes from patients with haemophilia and von Willebrand's disease. British journal of haematology, 1974, Volume: 28, Issue:1 Topics: Adolescent; Adult; Albumins; Antigens; Carbon Radioisotopes; Cells, Cultured; Chemical Precipitation	1974

glycine and von Willebrand Diseases