@MSkinnerDC
 Washington, DC
probestudy.org
Joined September 2013
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  • Followers532
29Media
The global #BleedingDisorders community is celebrating a milestone achievement! The #WHO has approved the WFH proposals to update the Essential Medicines List and the Essential Medicines List for Children. Stay tuned for more news on the work carried out by the WFH.
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Thank you for having me @VJHemOnc Several colleagues and I also published a reflective article on this: tinyurl.com/Why-is-the-uptak… I summarized some key points in the video. SPOILER ALERT It is not due to lack of interest in gene therapy. #hemophilia
VJHemOnc
@VJHemOnc7 Aug 2025
Why has the uptake of gene therapy in #hemophilia been less than expected? Is there limited interest in these therapies? 🤔🩸🧬 We caught up with @RKaczmarekDr of @IUMedSchool to get the answers to these questions: 👉 ow.ly/LFKL50WAwFA 👈 #GeneTherapy #Hematology #ISTH2025

Why has the uptake of gene therapy in hemophilia been less than expected?

In this video, Radek Kaczmarek, PhD, Indiana University School of Medicine, Indianapolis, IN, provides insight into the reasons for the lower-than-expected uptake of gene therapy in hemophilia, which...

vjhemonc.com
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Why is the uptake of gene therapy in hemophilia less than expected? rpthjournal.org/article/S247… Please review our current article detailing the complex decision making process, one that goes well beyond "patient interest". The desire to be cured remains strong.
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We’re deeply saddened by the passing of Drs. Pattraporn Isarangkura & Carol Kasper—true giants in our community. Appropriately jointly named as the 1st recipients of the @wfhemophilia Volunteer Award (2004). We honor their legacy with deep gratitude—their impact will live on.
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✨This #IWD2025, let’s unite to drive change! The PROBE Study is now adapted for women with bleeding disorders, helping to gather data, improve diagnosis, and advocate for better treatment. 📢 Participate: bit.ly/41urMt9 #WeBleedToo
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Process flawed with methodologist and non haemophilia treaters in lead roles. Patients initially involved all withdrew from the process prior to publication. An additional paper to follow critiquing the methodology. @wfhemophilia @EAHADnews @EHC_Haemophilia @HaemophiliaIRL 3/3
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Conclusions: Methodological approach used resulted in categorisation of evidence as weak. Failure to recognise the advantages of modern therapies. May misguide treaters, payers and Governments as they overlook important evidence and incorporate obsolete treatment principles 2/3
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A critique of the ISTH Haemophilia Guidelines was published in #Haemophilia Journal today with 49 eminent authors representing a global mixture of expertise, all united in their serious concerns about these guidelines which were already outdated on publication 1/3
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The WFH supports the findings of 49 global experts that examined the ISTH Guidelines & published a critical appraisal in @haemophilia_jnl. The appraisal highlights issues in the ISTH publication that could impact health outcomes for people with hemophilia: bit.ly/4g1zP70
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The WFH is aligned with the findings of 48 global experts within the #BleedingDisorder community, that have come together to publish an article on contrasting approaches in applying the GRADE methodology and how it can impact medical guidelines: bit.ly/3CWeQ6L
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Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and VWD. onlinelibrary.wiley.com/doi/… This article developed by a global team of 48 experts and international organizations rigorously examines a number of GRADE methodology adaptations.

Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and...

New guidelines for the management of haemophilia have recently been released by the ISTH, generating numerous reactions throughout the global community. These guidelines were developed by strictly...

onlinelibrary.wiley.com
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The puristic approach of the ISTH Guideline development, without consideration of accepted adaptations to GRADE implementation, led to recommendations that have been widely deemed invalid and obsolete by expert healthcare professionals and those living with hemophilia.
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The methodology should have allowed data from registries and real-world studies, integrated multiple patient-related outcomes and expert opinion. The strict application led ISTH to limited, conservative, and unambitious guidelines failing to consider newer treatments.
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In the paper, we review the data leading to the regulatory authorization in Europe of valoctocogene roxaparvovec, an adeno-associated virus (AAV)-5 gene therapy to treat haemophilia A and etranacogene dezaparvovec in the United States and Europe to treat haemophilia B. 2/3
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Paper just published online. The decision to take a gene therapy product is one in which an informed, holistic and shared decision-making approach must be employed. Bias on the part of healthcare professionals and people with haemophilia must be addressed and minimized. 1/3
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The Aging with a bleeding disorder panel at #WFHCCS presented many new challenges. A specialist multidisciplinary team is needed to ensure all individuals receive appropriate individualized care. @WillMcKeown Felipe Contreras, Sue Cutter, Piet de Klein @lochibabes @NiamhLarkinANP
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Pleased to report Initial Results of the Impact of Valoctocogene Roxaparvovec on Pain Occurrence and Interference: Insights from PROBE at #wfhCCS. Chronic pain is a core patient-important outcome.
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Recommendations for future of ageing PWH: recognise variation, impact on all genders, changed time horizons lead to new social rules, need enhanced mental health support #wfhCCS @MSkinnerDC
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Australian PROBE data shows impact of haemophilia on employment. In PWH 45-64 years, 50% in fulltime employment v over 80% in control population. For those aged >65, <10% of PWH employed full time v almost 30% for controls #wfhCCS @MSkinnerDC
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Australian PROBE data shows continued impairment in men with haemophilia in physical functioning and levels of pain compared to men with no bleeding disorder. @MSkinnerDC @wfhemophilia #wfhCCS
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