[Translation] A single-arm, open-label, multicenter clinical trial to evaluate the pharmacokinetics, efficacy and safety of human fibrinogen in adults and adolescents with congenital fibrinogen deficiency or deficiency

1）通过单次给药的PK研究，评估人纤维蛋白原在先天性纤维蛋白原减少或缺乏症患者中的药代动力学（PK）特征； 2）观察人纤维蛋白原治疗先天性纤维蛋白原减少或缺乏症患者的有效性和安全性； 3）通过单次给药的PK研究，评估市售人纤维蛋白原的药代动力学（PK）特征，为获得性低纤维蛋白原血症的对照药用量计算提供依据。

[Translation]

1) To evaluate the pharmacokinetic (PK) characteristics of human fibrinogen in patients with congenital fibrinogen deficiency or hypofibrinogenemia through a single-dose PK study; 2) To observe the efficacy and safety of human fibrinogen in the treatment of patients with congenital fibrinogen deficiency or hypofibrinogenemia; 3) To evaluate the pharmacokinetic (PK) characteristics of commercially available human fibrinogen through a single-dose PK study to provide a basis for the calculation of the dosage of the control drug for acquired hypofibrinogenemia.

Start Date12 Apr 2024

Sponsor / Collaborator

Guangdong Danxia Biological Pharmaceutical Co. Ltd.

100 Clinical Results associated with Hypodysfibrinogenemia, Congenital

100 Translational Medicine associated with Hypodysfibrinogenemia, Congenital

0 Patents (Medical) associated with Hypodysfibrinogenemia, Congenital

Literatures (Medical) associated with Hypodysfibrinogenemia, Congenital

01 Dec 2024·Journal of Clinical Laboratory Analysis

The β‐Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia

Article

Author: Luo, Qinghui ; Liao, Lin ; Wu, Yangyang ; Qin, Kaili ; Huang, Chaoyu ; Xiang, Liqun ; Zhang, Qian ; Qian, Chen ; Yan, Jie

ABSTRACTBackgroundCongenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen Bβ chain of a three‐month‐old female infant.MethodsCoagulation testing, gene analysis, in vitro plasmid construction, and functional analyses were conducted to investigate the underlying pathogenic mechanisms.ResultsPlasma fibrinogen levels showed decrease in the proband. DNA sequencing of the proband revealed a heterozygous point mutation (c.139C>T) in exon 2 of the FGB gene causing Arg → Stop substitution. Human Arg17 was found to be highly conserved. In vitro expression analyses indicated that the mutation impacts both the transcription and translation of the FGB gene, subsequently affecting the synthesis and secretion of fibrinogen.ConclusionsThe p.Arg17Stop mutation in the fibrinogen Bβ chain disrupts fibrinogen production and secretion, contributing to hypofibrinogenemia.

01 Nov 2023·HeartRhythm Case Reports

A serious complication of high-power short-duration radiofrequency atrial fibrillation ablation associated with genetic hypodysfibrinogenemia

Author: Qarmout, Mohammed ; Manam, Rajendra ; Lakshaman, Harini ; Shah, Dipak P ; Kalaba, Frank ; Ahmed, Ammar

01 Jan 2023·Acta Haematologica

Two Novel Heterozygous Mutations (p.γPhe230Val and p.AαAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two Chinese Independent Families

Author: Luo, Yuqing ; Ge, Shengchen ; Wang, Mingshan ; Chen, Yi ; Dong, Rujiao ; Guo, Xiaoli

The objective of this study was to explore the molecular defects in two Chinese families with hypodysfibrinogenemia. The coagulation method and immunoturbidimetric method were used to detect plasma fibrinogen activity and plasma fibrinogen antigen. The fibrinogen genes were amplified by PCR, and suspected mutations were confirmed by reverse sequencing. Bioinformatics and model analysis were used to study the conservatism and harm of the mutations. Study showed that the Fg:C and Fg:Ag of the probands of the two families were reduced, respectively, to 0.80g/L, 0.92g/L and 1.35g/L, 1.42g/L; gene analysis revealed that the proband 1 had a heterozygous missense mutation of c.688T>G (p.γPhe230Val) in exon 7 of the FGG gene; the c.2516A>C (p.AαAsn839Thr) heterozygous missense mutation in exon 6 of the FGA gene was got by the proband 2. These mutations found in this study might be related to the hypodysfibrinogenemia.

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Hypodysfibrinogenemia, Congenital

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