Global Hemophilia Report

On this episode of the Global Hemophilia Report, host Patrick James Lynch is on location in Madrid, Spain for the WFH 2024 World Congress. Patrick talks about the history of World Hemophilia Day and talks with some of the attendees at the congress. Contributors: Hazri Aris Johnny Mahlangu Rebecca, Hematology Resident Senior Advisor: Donna DiMichele, MD Hosted & Written by: Patrick James Lynch Featured Advertiser: Sanofi Subscribe to the Global Hemophilia Report Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

In this episode, delve into the transformative journey of patient-reported outcomes measures (PROMs) within hemophilia care, exploring their evolution from broad assessments of health-related quality of life to nuanced evaluations of physical ability, functionality, and psychological impact. Learn about pioneering instruments like the Hemo-TEM and the PROBE questionnaire, designed to capture the multifaceted burdens of hemophilia treatment and the patient experience. However, as the landscape of PROMs continues to evolve, discover lingering debates around their sufficiency compared to standardized measures like PROMIS, and the ongoing quest to ensure their responsiveness to change in evaluating novel therapeutics and treatment paradigms. Join us as we unravel the complexities of translating patient-reported clinical outcomes into patient-informed clinical research outcomes. Contributors: Mark Skinner, JD Brian O'Mahony Bradley Rayner Dawn Rotellini Mosi Williams, LCSW, MSW, PsyD Senior Advisor: Donna DiMichele, MD Hosted & Written by: Patrick James Lynch Featured Advertiser: Sanofi Subscribe to the Global Hemophilia Report Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

The topic of discussion for this episode leans more toward the scientific side but has huge clinical relevance. For today, we will be asking our expert panel to lend their experience and expertise to the topic of FVIII and FIX, which we will be discussing from several related perspectives. Contributors: Radek Kaczmarek, PhD, MSc; University of Indiana, USA Peter Lenting, PhD; INSERM, Paris, France Ben Samuelson -Jones, M.D., PhD; CHOP Research Institute, USA Courtney Thornburg, M.D., MS; Rady Children’s Hospital, UCSD, USA Senior Advisor: Donna DiMichele, MD Hosted & Written by: Patrick James Lynch Featured Advertiser: Sanofi Subscribe to the Global Hemophilia Report Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

Gene therapy for hemophilia A and B now exists as a licensed, prescribable treatment option for patients in certain countries; however, many questions and challenges remain. Senior advisor Dr. Donna DiMichele and patient-host Patrick James Lynch speak to global KOLs about the current state of hemophilia A and B gene therapies, both commercially and investigationally. Contributors: Lindsey A. George, MD Margareth Ozelo, MD Steven Pipe, MD Senior Advisor: Donna DiMichele, MD Hosted & Written by: Patrick James Lynch Featured Advertiser: Sanofi Subscribe to the Global Hemophilia Report Notes and References: Nathwani: Hematology Am Soc Hematol Educ Program . 2022 Dec 9;2022(1):569-578. The current state of this exciting and rapidly evolving field, as well as the challenges that need to be overcome for the widespread adaptation of this new treatment paradigm, is the subject of this review. Pipe: N Engl J Med. 2023 Feb 23;388(8):706-718 The annualized bleeding rate decreased from 4.19 (95% confidence interval [CI], 3.22 to 5.45) during the lead-in period to 1.51 (95% CI, 0.81 to 2.82) during months 7 through 18 after treatment, for a rate ratio of 0.36 (95% Wald CI, 0.20 to 0.64; P<0.001), demonstrating noninferiority and superiority of etranacogene dezaparvovec as compared with factor IX prophylaxis. Factor IX activity had increased from baseline by a least-squares mean of 36.2 percentage points (95% CI, 31.4 to 41.0) at 6 months and 34.3 percentage points (95% CI, 29.5 to 39.1) at 18 months after treatment, and usage of factor IX concentrate decreased by a mean of 248,825 IU per year per participant in the post-treatment period (P<0.001 for all three comparisons). Benefits and safety were observed in participants with predose AAV5 neutralizing antibody titers of less than 700. No treatment-related serious adverse events occurred. Long-Term Effects of Hemophilia B Gene Therapy. Makris M.N Engl J Med. 2023 May 18;388(20):1918. Long-Term Effects of Hemophilia B Gene Therapy. Reply. Pipe SW, Monahan PE.N Engl J Med. 2023 May 18;388(20):1918-1919 Mahlangu: N Engl J Med. 2023 Feb 23;388(8):694-705 Results: At week 104, a total of 132 participants, including 112 with data that were prospectively collected at baseline, remained in the study. The mean annualized treated bleeding rate decreased by 84.5% from baseline (P<0.001) among the participants. From week 76 onward, the trajectory of the transgene-derived factor VIII activity showed first-order elimination kinetics; the model-estimated typical half-life of the transgene-derived factor VIII production system was 123 weeks (95% confidence interval, 84 to 232). The risk of joint bleeding was estimated among the trial participants; at a transgene-derived factor VIII level of 5 IU per deciliter measured with chromogenic assay, we expected that participants would have 1.0 episode of joint bleeding per year. At 2 years post infusion, no new safety signals had emerged and no new serious adverse events related to treatment had occurred Miesbach : Dtsch Arztebl Int. 2022 Dec 27;119(51-52):887-894. Data from non-randomized phase 1 to phase 3 trials reveal an adequate expression of factors VIII and IX in patients with mostly severe hemophilia A or B. Even though they were no longer receiving prophylactic treatment, most patients experienced a considerable reduction, by 53% to 96%, in the number of bleedings compared to previous therapy. Persistently elevated factor levels have been described for up to six years in hemophilia A and up to eight years in hemophilia B. The most common side effect of gene therapy is an inflammatory response with elevated alanine aminotransferase levels (17% to 89%, depending on the study), which may be associated with a reduced clotting factor level and requires treatment with transient immunosuppression. Gene therapy for hemophilia holds out the prospect of freedom from hemorrhage without the need for regular...

Join us as we shed light on the often-overlooked intersection of Post Traumatic Stress Disorder (PTSD) and Hemophilia, discussing innovative treatments, personal stories, and the journey towards understanding and managing these complex disorders. Contributors: Stephen W. Porges, PhD Debbie de la Riva Amanda Stahl, MSW, LICSW Justin Levesque Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook

The US National Research Blueprint (NRB). Thriving in the Face of an Inheritable Bleeding Disorder Begins with Community-Inspired Research. Contributors: Len Valentino, MD Keri Norris, MD Maria Santaella, MD Michael Recht, MD Sammie Valadez Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

In this episode, we address the critical intersections of LGBTQ+ health and hemophilia care. Delving into the historical links with the HIV crisis, we scrutinize the disparities in care access, the mental health implications, and the unique challenges faced during transition to independent care. We discuss the intricacies of prophylactic drug regimens, vaccines, and the hemophilic bleeding risk related to LGBTQ+ sexual health. With insights into gender-affirming care, reproductive counseling, and knowledge gaps, we provide a comprehensive perspective tailored for physicians and clinicians aiming for holistic patient care. Contributors: Nathan Connell, MD Nancy Sokkary, MD Robert Sidonio, MD Greig Blamey, Physiotherapist Dakota J. Rosenfelt, PharmD, RPh, MBA Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD

On this episode, we will address defining sexual health and its importance to hemophilia care, best practices and standards for addressing sexual health, implementing a practice of addressing sexual health into a comprehensive care model, envisioning progress in care models for addressing sexual health in both global and personalized ways and more. Contributors: Greig Blamey, Physiotherapist Maureen Baldwin, MD William McKeown, MD Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

Persons with mild hemophilia have been shown to experience more bleeding - related morbidity than previously recognized while achieving lifespans that parallel the general population. Consequently, persons living with mild hemophilia are more likely to experience the comorbidities associated with aging, often complicating their management in their later years. Contributors: Prof Karin (C. J.) Fijnvandraat MD PhD Maria Elisa Mancuso, MD PhD Michael Recht, MD PhD MBA Vaughn Ripley Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD

Telehealth options are assumed to provide added benefit to providers and patients alike, but how much do we really know and understand about telemedicine? Listen in to the latest episode of Global Hemophilia Report as our contributors share how telemedicine has potentially benefited and detracted from hemophilia care across different populations as well as what research must still be done on the rise of telehealth in hemophilia care Contributors: Sativa Rangarajan, Associate Professor of Clinical Haematology Michelle Witkop, DNP, FNP-BC Dr. Roshni Kulkarni, Professor & Former Director Michigan State University Centers For Bleeding And Clotting Disorders Annette von Drygalski, MD, PharmD Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

The social determinants of health (SDH) are the non-medical factors that influence health outcomes. They are the conditions in which people are born, grow, work, live, and age, and the wider set of forces and systems shaping the conditions of daily life. These forces and systems include economic policies and systems, development agendas, social norms, social policies and political systems. Contributors: Keri Norris, PhD, JM, MPH, MCHES Karina Lopez, MPH Adrian Palau-Tejeda Marissa Melton, MPH Chris Bombardier Mosi Williams Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

Historically, camps for kids with hemophilia have played a specific and valuable role, enabling a young person with hemophilia to experience all the benefits of a traditional, summer camp experience. On this episode, we dig into the camp experience with some of the leading voices within the space. Contributors: Tracey Gaslin PhD, CPNP, FNP-BC, CRNI, RN-BC Michael Wang, MD Pat Torrey Sarah Shinkman Chris Bombardier Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Written by: Simantini Karve, PhD Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

Historically, people with hemophilia and especially children, have lived with considerable limitations when it comes to engagement in sports and athletics, thereby missing out on the numerous biopsychosocial and general health. However, both advancements in hemophilia care/treatment and advancements in understanding the benefits of engaging in sports have significantly changed the risk/benefit equation– but exactly, how? Contributors: Marilyn Manco Johnson, M.D. Olav Versloot, PhD Paul Mclaughlin Chris Bombardier Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Watch the film Bombardier Blood Listen to The Final Summit podcast Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

On this episode we’re in conversation with research leaders to learn more about the current state of hemophilia research, the barriers and opportunities we're facing today, and what the future of hemophilia research might look like. Contributors: Flora Peyvandi, MD, PhD Keith Hoots, MD Len Valentino, MD Michelle Witkop, DNP, FNP-BC Glenn Pierce, MD, PhD Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

There has been a remarkable increase in the life expectancy of persons living with hemophilia (PLWH) over the past century, largely due to access to safe factor replacement products. However, the course of progress has been uneven, and rocky, for many. This is part two of our series on Aging with Hemophilia. Contributors: William McKeown, MD Randall Curtis Gerry Dolan, MD, MBChB, FRCP, FRCPath Barbara Konkle, MD Sara L. Schwartz, PhD Tam Perry, PhD Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

There has been a remarkable increase in the life expectancy of persons living with hemophilia (PLWH) over the past century, largely due to access to safe factor replacement products. However, the course of progress has been uneven, and rocky, for many. Contributors: William McKeown, MD Randall Curtis Gerry Dolan, MD, MBChB, FRCP, FRCPath Barbara Konkle, MD Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Listen to Blood of the Paladin Podcast Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Listen to BloodStream’s Journey to Joint Health episode. Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

Renowned hematologist, researcher, and senior advisor to the Global Hemophilia Report Dr. Donna DiMichele shares some of her Season 1 takeaways and thoughts about the future of hemophilia research. Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Listen to BloodStream’s Journey to Joint Health episode. Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

On this episode, we continue our discussion of chronic pain in hemophilia. We’ll discuss exercise, medication and investigations. Contributors: Nathalie Anne Roussel, PhD, MSc, PT Paul Mc Laughlin, BSc, MSc, MMACP Senior Advisor: Donna DiMichele, MD Episode Advisors (also contributors): Michelle Witkop, DNP, FNP-BC Tyler Buckner, MD Hosted by: Patrick James Lynch Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Listen to BloodStream’s Journey to Joint Health episode. Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

According to the Centers for Disease Control, pain is one of the most common reasons people seek medical care. However, for persons affected by hemophilia A and B, the experience of pain has provided the subtext for many issues related to health and wellbeing across the lifespan, and irrespective of gender, age, and, potentially, hemophilia severity levels. Although less-well characterized in children, pain is already embedded in the life experience of a PWH, and a substantial contributor to poor health-related quality of life in adolescence and young adulthood, further increasing in negative impact throughout adult life. In this episode, we explore pain’s prevalence, mechanisms, and more. Contributors: Nathalie Anne Roussel, PhD, MSc, PT Paul Mc Laughlin, BSc, MSc, MMACP Michelle Rice Senior Advisor: Donna DiMichele, MD Episode Advisors (also contributors): Michelle Witkop, DNP, FNP-BC Tyler Buckner, MD Hosted by: Patrick James Lynch Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Listen to BloodStream’s Pain Podcast Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter

In Part 2 of our Hemophilia B episode, we spotlight research priorities into women with hemophilia B, novel therapies to treat people with hemophilia B, and we conclude the story of Alexei Nikolaevich, the last Tsesarevich of Russia. Contributors: Bethany Samuelson Bannow, MD Brian O'Mahony Kathaleen M. Schnur, MSW, LCSW Senior Advisor: Donna DiMichele, MD Episode Advisors (also contributors): Dr. Amy Shapiro Professor Jan Astermark Hosted by: Laurence Woollard Links to learn more: Brown A. "The Royal Disease and The Royal Collapse: Political Effects of Hemophilia in the Royal Houses of Europe."Honor Scholar Theses. 2017;63. [Online]. Available at: https://scholarship.depauw.edu/cgi/viewcontent.cgi?article=1063&context=studentresearch[Accessed 10 October 2022] Gualtierotti R, et al. Updates on novel non-replacement drugs for hemophilia.Pharmaceuticals2022;15(10):1183. Doi: 10.3390/ph15101183 Hart DP, et al. International consensus recommendations on the management of people living with haemophilia B.Ther Adv Hematol2022;13:1-22. Doi: 20406207221085202 Hoffman TA. "Bad Blood: Hemophilia and Its Detriment to the Russian Imperial Family."Young Historians Conference. 2022;8. [Online]. Available at: https://pdxscholar.library.pdx.edu/cgi/viewcontent.cgi?article=1244&context=younghistorians[Accessed 10 October 2022] Lannoy N, Hermans C. The ‘royal disease’ – haemophilia A or B? A haematological mystery is finally solved.Haemophilia2010;16:843-47. Doi: 10.1111/j.1365-2516.2010.02327.x Nathwani A, et al. Liver gene therapy.Hum Gene Thur2022;33:17-18. Doi: 10.1089/hum.2022.169 O’Donovan M, et al. Recombinant factor IX-Fc fusion protein in severe hemophilia B: Patient-reported outcomes and health-related quality of life.Res Pract Thromb Haemost2021;5(7):e12602. Doi: 10.1002/rth2.12602 Peeling S.Russo-Japanese War. International Encyclopaedia of the First World War. 1914-1918. [Online]. Available at: https://encyclopedia.1914-1918-online.net/article/russo-japanese_war[Accessed 10 October 2022] Potts WTW. Royal haemophilia. J Biol Educ1996;30(3):207-17. DOI: 10.1080/00219266.1996.9655504 Price KD. "Diary of Nicholas II, 1917-1918, an annotated translation."Graduate Student Theses, Dissertations, & Professional Papers. 1966;2065. [Online]. Available at: https://scholarworks.umt.edu/cgi/viewcontent.cgi?article=3084&context=etd[Accessed 10 October 2022] Radcliffe J. “Rasputin and the Fragmentation of Imperial Russia.”Young Historians Conference.2017;14. [Online]. Available at: https://pdxscholar.library.pdx.edu/younghistorians/2017/oralpres/14/[Accessed 10 October 2022] Show Notes: Presenting Sponsor: Sanofi Subscribe to the Global Hemophilia Report Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter