Publications by authors named "Annie Harroche"

Objectives: To assess the real-world efficacy and safety of recombinant factor IX albumin fusion protein (rIX-FP) in patients with hemophilia B (HB) in France.

Methods: Data on dosing frequency, weekly consumption, and bleeds before-and-after switching to rIX-FP, were collected from December 2021 to February 2024. Annualized (spontaneous) bleeding rates [A(s)BRs] were calculated only in patients on prophylaxis with a follow-up ≥ 6 months.

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Introduction: In the context of severe unexplained haemorrhage (SH), it is usual to seek haematological evaluation and investigate for an inherited rare bleeding disorder (IRBD). In such circumstances, appropriate screen can discriminate between IRBD and suspected child abuse. Yet, little information is available about the frequency of SH in the population of patients with IRBD.

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Acquired haemophilia A (AHA) is a rare haemorrhagic disease characterised by new-onset haemorrhagic symptoms associated with a dramatic decrease in factor VIII levels and an anti-factor VIII neutralising autoantibody concentration >0.6 Bethesda units. Elderly people are often affected, whereas children are rarely affected; the paediatric incidence reported in the literature is about 0.

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Introduction: It is necessary to gain insights into adherence to healthcare in people with severe haemophilia (PwSH), especially during the transition from paediatric to adult care, which is an important phase in lives of young people with childhood chronic disease. This adherence can be considered as a marker of successful transition.

Objectives: The main objective of the quantitative phase of the TRANSHEMO project was to compare the adherence to healthcare between adolescents and young adults (YAs) with severe haemophilia.

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Objectives: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines.

Methods: In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events.

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Over the last years, there has been a considerable expansion of genome-wide association studies (GWAS) for discovering biological pathways underlying pathological conditions or disease biomarkers. These GWAS are often limited to binary or quantitative traits analyzed through linear or logistic models, respectively. In some situations, the distribution of the outcome may require more complex modeling, such as when the outcome exhibits a semicontinuous distribution characterized by an excess of zero values followed by a non-negative and right-skewed distribution.

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Background:  rVIII-SingleChain is a recombinant factor VIII (FVIII) with increased binding affinity to von Willebrand factor compared with other FVIII products. rVIII-SingleChain is indicated for the treatment and prevention of bleeding episodes in patients with hemophilia A.

Objectives:  To collect real-world evidence data from patients treated with rVIII-SingleChain to confirm the efficacy and safety established in the clinical trial program and carry out a population pharmacokinetic (PK) analysis.

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Article Synopsis
  • * Researchers identified multiple FXI deficiency cases with significant gene deletions, including whole gene deletions and specific exon deletions, through techniques like Sanger sequencing and Multiplex Probe Ligation-dependent Assay (MLPA).
  • * The findings suggest that a notable 2.9% of patients had gene deletions, indicating that systematic use of MLPA or Next Generation Sequencing (NGS) could improve diagnosis in unsolved FXI cases.
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Background: Patients with symptomatic von Willebrand disease (VWD) should be offered long-term prophylaxis (LTP) to prevent recurrent bleedings. Our objective was to evaluate the effectiveness and safety of Voncento®, a plasma-derived FVIII/VWF concentrate (ratio 1:2.4), administrated in LTP.

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Background: Nonacog alfa, a standard half-life recombinant factor IX (FIX), is used as a prophylactic treatment in severe haemophilia B (SHB) patients. Its half-life determined in clinical studies involving a limited sampling (72 h) was shown to be rather short. In our clinical practice, we suspected that its half-life could have been underestimated.

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Article Synopsis
  • The activated clotting time (ACT) is a test to see how long it takes for blood to clot and is important when using a blood thinner called heparin during heart surgeries or procedures.
  • A new medicine called emicizumab helps prevent bleeding in people with hemophilia A and works faster than another medicine, but it doesn’t stop the effects of heparin on ACT.
  • The study showed that even with emicizumab, heparin still makes the ACT longer, meaning doctors can still rely on ACT tests to check how well heparin is working for patients using emicizumab during medical procedures.
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SLC37A4-CDG is an emerging congenital disorder of glycosylation which is characterized by a dominant inheritance and a major coagulopathy originating from the liver. Recent studies took interest in the biochemical alterations found in this CDG and showed that they consisted of multiple glycosylation abnormalities, which result from mislocalization of the endoplasmic reticulum glucose-6-phosphate transporter and associated Golgi homeostasis defects. In this work, we highlight in six affected individuals abnormal patterns for various serum N-glycoproteins and bikunin proteoglycan isoforms, together with specific alterations of the mass spectra of endoglycosidase H-released serum N-glycans.

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Article Synopsis
  • SLC37A4 is a gene that codes for a protein essential for transporting glucose-6-phosphate into the endoplasmic reticulum, which is important for glucose metabolism, especially during times of glucose scarcity.
  • Mutations in SLC37A4 lead to glycogen storage disorder 1b, which causes liver and kidney issues, along with a lack of certain white blood cells (neutropenia).
  • Research on seven individuals with a specific mutation in SLC37A4 revealed liver dysfunction and abnormal serum glycans, and CRISPR technology was used to create liver cells mimicking the mutation's effects, connecting it to abnormal glycosylation and changes in cell structure.
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Objective: The clinical outcome of pediatric intracerebral hemorrhage (pICH) is rarely reported in a comprehensive way. In this cohort study, systematic review, and meta-analysis of patients with pICH, the authors aimed to describe the basic clinical outcomes of pICH.

Methods: Children who received treatment for pICH at the authors' institution were prospectively enrolled in the cohort in 2008; data since 2000 were retrospectively included, and data through October 2019 were analyzed.

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