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Last update 23 Jan 2025

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Last update 23 Jan 2025

Basic Info

Synonyms

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY, 6-Pyruvoyl tetrahydropterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

+ [19]

Introduction

An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.

Drugs associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Recombinant coagulation factor VIII (Rongsheng Pharmaceuticals)

Target

F10

Mechanism

F10 stimulants [+2]

Active Org.

Chengdu Rongsheng Pharmaceutical Co., Ltd.

Originator Org.

Chengdu Rongsheng Pharmaceutical Co., Ltd.

Active Indication

Hemophilia A

Inactive Indication

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date05 Sep 2023

Para-Toluenesulfonamide

Target

CA2 x CA3

Mechanism

CA2 inhibitors [+1]

Active Org.

Gongwin Biopharm Holdings Co., Ltd. [+1]

Originator Org.

Tianjin Hongri Jiandakang Medical Technology Co Ltd

Active Indication

Non-Small Cell Lung Cancer [+1]

Inactive Indication

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency [+5]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date15 Nov 2022

Simoctocog alfa

Target

F10

Mechanism

F10 stimulants

Active Org.

Octapharma AB [+4]

Originator Org.

Octapharma AG

Active Indication

Hemophilia A

Inactive Indication

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

EU [+3]

First Approval Date22 Jul 2014

Clinical Trials associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

JPRN-jRCT2052220174

/ RecruitingPhase 3IIT

Efficacy and safety clinical trial in SKD-001

Start Date22 Feb 2023

Sponsor / Collaborator-

NCT05409144

/ Unknown statusNot ApplicableIIT

Impact of Thoracic Epidural Infusion Versus Continuous Serratus Anterior Plane Block Versus Continuous Erector Spinae Plane Block on Incidence of Post Thoracotomy Pain Syndrome: A Randomized Controlled Trial

The aim of this study is to evaluate the impact of Ultrasound-guided Erector Spinae plane block compared to Ultrasound-guided serratus anterior plane block on the emergence of post-thoracotomy pain syndrome in patients undergoing lobectomy for lung cancer.

Start Date20 Jun 2022

Sponsor / Collaborator

The National Cancer Institute (Egypt)

NCT04128956

/ TerminatedPhase 2IIT

Aspirin® Plus Rivaroxaban Versus Rivaroxaban Alone for the Prevention of Venous Stent Thrombosis in Patients With Post-thrombotic Syndrome a Multi-center, International, Randomized, Open Label, Controlled Trial

To show if a combination therapy of rivaroxaban plus Aspirin® is more efficient (superiority testing) as rivaroxaban alone in the prevention of early venous stent thrombosis in patients suffering from post-thrombotic syndrome in the first 6 months following endovascular therapy To demonstrate tolerability of combination therapy of Aspirin® plus rivaroxaban in long-term treatment.

Start Date11 Mar 2020

Sponsor / Collaborator

University of Zurich

[+4]

100 Clinical Results associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

100 Translational Medicine associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

0 Patents (Medical) associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

480

Literatures (Medical) associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

01 Feb 2025·Annals of Vascular Surgery

Post-Thrombotic Syndrome Morbidity in Mechanical Thrombectomy Versus Pharmacomechanical Catheter-Directed Thrombolysis of Iliofemoral Deep Venous Thrombosis

Article

Author: Kann, Rachel J. ; Chaer, Rabih A ; Kann, Rachel J ; Sridharan, Natalie D ; Tang, Anthony ; Donohue, Jack K. ; Li, Kevin ; Vodovotz, Lena ; Donohue, Jack K ; Abou Ali, Adham N ; Chaer, Rabih A. ; Sridharan, Natalie D. ; Abou Ali, Adham N.

BACKGROUNDIliofemoral deep venous thrombosis is strongly associated with post-thrombotic syndrome (PTS). Interventional treatment options include catheter-directed thrombolysis and pharmacomechanical thrombectomy. More recently, there has been a wide dissemination of large-bore devices for mechanical thrombectomy (MT). Both treatment types have been shown to be effective in clinical practice; however, the rates of PTS after MT are poorly characterized.METHODSWe conducted a retrospective review of patients with acute iliofemoral deep venous thrombosis from 2007 to 2022. Patients were divided into 2 treatment groups: pharmacomechanical catheter-directed thrombolysis (PCDT) and MT with large-bore devices. Our primary endpoint was PTS (Villalta score >4). Secondary outcomes included vessel patency, mortality, and moderate/severe PTS (Villalta score >9). Predictors of PTS were analyzed using multivariable logistic regression.RESULTSThe median age of our cohort (n = 349) was 49 (interquartile range 35-63) years, 54.2% were female. There were 294 (84.2%) patients treated with PCDT. There were no significant baseline characteristic differences between patients treated with PCDT versus MT aside from increased preoperative anticoagulant use in the MT cohort. The overall rate of PTS was 19.1%. There were no differences in rates of PTS, moderate-severe PTS, stent patency, mortality between groups, or hospital length of stay. However, patients treated with MT had higher rates of single operating room visit during their admission treatment relative to patients that underwent PCDT (33.3% vs. 9.0%, P < 0.01) and decreased intensive care unit length of stay (2 (1-3) vs. 0.5 (0-2), P < 0.01). MT treatment was not a risk factor for the development of PTS (adjusted odds ratio [aOR] 0.73; [95% confidence interval {CI} 0.30, 1.74]; P = 0.47) or associated with increased Villalta score (β: -0.34; [95% CI-1.28, 0.60]; P = 0.47). Infrainguinal deep venous thrombosis extension (aOR 2.18; [95% CI 1.16, 4.09]; P = 0.02), prior deep venous thrombosis (aOR 2.67; [95% CI 1.38, 5.13]; P < 0.01), and a hypercoagulable state (aOR 2.32; [95% CI 1.19, 4.50]; P = 0.01) were associated with increased risk of PTS.CONCLUSIONSTreatment with large-bore MT was not a significant predictor for the development of PTS. MT appears safe, durable, and associated with greater rates of single operating room visit relative to PCDT, which suggests that rapid thrombus removal may be of value.

01 Jan 2025·Journal of Thrombosis and Haemostasis

Incidence and risk factors for postthrombotic syndrome in neonates and children in a single-center cohort study

Article

Author: Fijnvandraat, Karin ; Rettenbacher, Eva ; Cannegieter, Suzanne ; Klaassen, Irene ; Sari, Sahinde ; Suijker, Monique ; van Ommen, Heleen

BACKGROUNDPostthrombotic syndrome (PTS) is a chronic condition following deep vein thrombosis (DVT) and is associated with pain, swelling, and restricted use of the affected limb. In pediatric age groups, its incidence and risk factors are not well-known.METHODSThis observational cohort study of all consecutive children (≤18 years) with DVT treated at the Emma Children's Hospital Amsterdam between January 2001 and January 2021 was conducted to identify incidence and risk factors for PTS in neonates aged ≤2 months and children aged >2 months. PTS was diagnosed using the modified Villalta scale.RESULTSIn total, 315 patients were included. The 20-year incidence of PTS was 20.0% in neonates and 40.0% in children. In neonates, involvement of ≥3 vessels (odds ratio [OR], 6.6; 95% CI, 1.6-26.4) and incomplete thrombus resolution (OR, 3.0; 95% CI, 1.1-8.0) were risk factors for PTS. In children, involvement of ≥3 vessels (OR, 6.2; 95% CI, 2.2-17.8), recurrent DVT (OR, 3.7; 95% CI, 1.3-10.3), and incomplete thrombus resolution (OR, 5.2; 95% CI, 1.6-17.0) were associated with PTS. Exercise ≥3 times/wk (OR, 0.4; 95% CI, 0.2-0.9), central venous catheter-related DVT (OR, 0.2; 95% CI, 0.1-0.5), and provoked DVT (OR, 0.4; 95% CI, 0.1-0.97) were protective factors for PTS.CONCLUSIONThis study demonstrated a high incidence of pediatric PTS. Additionally, risk factors for PTS differed between neonates and children. These findings provide a basis for better prevention and management of PTS that may differ between neonates and children.

01 Dec 2024·Journal of Pediatric Intensive Care

Associations between Electroencephalographic Variables, Early Post-Traumatic Seizure Risk, and Outcomes following Pediatric Severe Traumatic Brain Injury

Article

Author: Lovett, Marlina E. ; Chung, Melissa G. ; Ostendorf, Adam P. ; O'Brien, Nicole F. ; Nickerson, Taylor E. ; Villo, Lauren ; Eisner, Mariah ; Sribnick, Eric A.

AbstractEarly post-traumatic seizures (PTS) are associated with worse outcomes in children with traumatic brain injury (TBI). Our aim was to identify the association between continuous electroencephalogram (cEEG) characteristics and early PTS risk following pediatric severe TBI. We also evaluated the relationship between cEEG background features and outcomes. A single-center retrospective cohort study was performed on children between 0 and 18 years of age admitted to the pediatric intensive care unit from 2016 to 2019 with severe TBI and cEEG monitoring within 7 days of injury. Raw cEEG tracings were reviewed by an epileptologist in accordance with American Clinical Neurophysiology Society (ACNS) Critical Care EEG terminology. Univariate comparisons were made between children with and without early PTS, as well as between those with and without varying cEEG background features. Eighteen children (31%) of the 59 included had early PTS. Interictal abnormalities, inclusive of sporadic spikes and sharp waves, rhythmic delta activity, or lateralized periodic discharges (LPDs) were more common among children with seizures (100 vs. 22%; p < 0.01). LPDs were also more common in the seizure group (44 vs. 2%; p < 0.01). Background discontinuity was associated with worse Glasgow Outcome Scale—Extended Pediatric Version (GOS-E Peds) scores at discharge and 3-, 6-, and 12-month post-discharge (p < 0.01). Lack of reactivity was also associated with worse GOS-E Peds scores at 3-, 6-, and 12-month post-discharge (p < 0.01). Interictal abnormalities and LPDs were each associated with early PTS following pediatric severe TBI. Larger studies should evaluate if high-risk patients would benefit from prolonged cEEG monitoring and/or more aggressive anti-seizure prophylaxis. Discontinuity and lack of variability were associated with worse outcomes. Future studies should attempt to clarify their role as potential early markers of prognosis.

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