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Top 5 Most-Read Articles On Rare Blood Disorders In 2024

Key findings from 2024 focused on conditions like vaccine-induced immune thrombotic thrombocytopenia, immune thrombocytopenia, and hemophilia, stressing the importance of early detection and innovative therapies.

As research into rare blood disorders advances, 2024 has seen research illuminate the challenges and breakthroughs in diagnosis and treatment. Key findings focused on conditions like vaccine-induced immune thrombotic thrombocytopenia (VITT), immune thrombocytopenia (ITP), and hemophilia, stressing the importance of early detection and innovative therapies. Additionally, disparities in health outcomes for populations such as those with sickle cell disease (SCD) have come to the forefront.

The top 5 most-read articles related to rare blood disorders in 2024.

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Read more about 2024's top 5 most-read articles related to rare blood disorders.

5. Managing Rare Thrombotic Events Following COVID-19 Vaccination

This year, research has highlighted the importance of early identification and treatment of rare hematologic events, such as VITT and ITP, following COVID-19 vaccination. Investigators reviewed 9 cases of new-onset thrombocytopenia occurring 4 to 42 days post vaccination with Pfizer-BioNTech, Moderna, or AstraZeneca vaccines. Findings exhibited the role of diagnostic tests for heparin-induced thrombocytopenia (HIT) like HIT serotonin release assay in confirming VITT. They outlined treatment approaches, including corticosteroids, nonheparin anticoagulation, and intravenous immunoglobulin. Long-term outcomes varied, with some patients requiring prolonged hospitalization and complex interventions. Most patients continued with subsequent mRNA vaccinations, although the study acknowledged the need for more research into the ongoing management of VITT and ITP, particularly in refractory cases.

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4. Myeloid Panel Analysis Imperative for Risk Assessment in Patients With CCUS

Mutational analysis for patients with clonal cytopenia of undetermined significance (CCUS) who have undergone bone marrow examinations was supported by data from the Lancet Haematology. Findings suggested that identifying mutation profiles and high-risk mutations can better predict disease progression and enable earlier interventions. Researchers conducted a prospective study of over 2000 patients, revealing that 41.1% carried somatic mutations. Patients with CCUS were found to have distinct genetic mutations, such as TET2 and SRSF2, while mutations like SF3B1 and ASXL1 were more common in those progressing to myelodysplastic syndrome. The number of mutations can significantly predict progression to myeloid malignancies, with certain mutations, including TP53 and ASXL1, linked to worse survival outcomes, supporting the need for early detection and expanded genetic panels to optimize patient management.

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3. FDA Approves Marstacimab, First Weekly Sub-Q Option for Hemophilia B

In October, the first subcutaneous therapy for hemophilia B was approved by the FDA, offering a significant advancement in bleeding prevention for patients with hemophilia A or B without inhibitors. Marstacimab (Hympavzi) reduces the treatment burden of frequent intravenous infusions via weekly administration with its autoinjected pen. The therapy effectively decreased annualized bleeding rates by 35% compared with routine prophylaxis and 92% compared with on-demand treatment, based on phase 3 BASIS trial results. Developed by Pfizer, marstacimab targets the tissue factor pathway inhibitor to improve clotting and is priced at $795,600 annually, comparable to other hemophilia therapies. Experts and advocacy groups have praised the therapy for its potential to enhance quality of life.

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2. Immunosuppressive Therapies Shown to Significantly Impact Remission in Acquired Hemophilia A

Immunosuppressive therapies (ISTs) demonstrated efficacy in achieving complete remission (CR) in patients with acquired hemophilia A (AHA), a rare bleeding disorder caused by neutralizing antibodies against factor VIII (FVIII). The investigation, involving 165 patients, revealed that IST, particularly rituximab-based regimens, achieved CR rates up to 93.3%, with bleeding controlled in over 80% of cases using hemostatic therapies like prothrombin complex concentrate or recombinant activated FVII. However, higher FVIII inhibitor titers (≥ 15 BU/mL) and bleeding scores of 6 or more were linked to poorer IST responses, emphasizing their prognostic value. Despite AHA's rarity and diagnostic challenges, the findings exhibit the potential of IST in managing AHA and call for larger, multicenter studies to refine treatment approaches and improve outcomes.

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1. COVID-19 Vaccination Rates Far Lower in Patients With SCD Compared With General Population

COVID-19 vaccination completion rates among patients with SCD were found to be significantly lower than those without SCD, with only 33.5% of SCD patients completing their vaccinations compared with over 61% of the general population. The research findings exhibit the increased vulnerability to severe infections of patients with SCD due to the disease's effects on the immune system, particularly concerning the spleen's function. Researchers analyzed data from the Michigan Care Improvement Registry and the Michigan Sickle Cell Data Collection program, identifying a total of 3424 individuals with SCD. The vaccination rates increased with age for both groups, and significant age-related differences in immunization completion were noted. The study stated the need for further research to understand vaccination perspectives among this population and to develop strategies to improve their vaccination rates to reduce COVID-19–related morbidity and mortality.

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Sanofi Advances A Drug For A Rare, Platelet-destroying Disease

(This roundup of news from the ASH 2024 conference first appeared in STAT's "ASH in 30" newsletter. To get future editions, sign up here.)

Greetings from the always-lovely San Diego. Adam Feuerstein, here, and as you can see from the sunrise photo above, I am still very much on East Coast time. (Nice view from my hotel room, however.) I have traveled a great distance to bring you news and analysis from the annual meeting of the American Society of Hematology. And I'm not alone! Joining me are fellow STAT reporters (and West Coast denizens, all) Jonathan Wosen, Angus Chen, and Meghana Keshavan. Let's roll. 

Sanofi advances a new treatment for a rare, platelet-destroying disease

An oral treatment developed by the French pharma giant Sanofi raised platelet counts and reduced bleeding episodes in patients with a rare autoimmune disorder that causes the body to attack and destroy its own blood-clotting platelets.

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Sanofi's Rilzabrutinib Shows Promise In Phase 3 Immune Thrombocytopenia Study

Sanofi has presented promising results from a phase 3 study of its investigational oral Bruton's tyrosine kinase (BTK) inhibitor rilzabrutinib in patients with immune thrombocytopenia (ITP).

Data from the late-stage LUNA 3 study, which has been evaluating the drug in adults and adolescent patients with persistent or chronic cases of the rare autoimmune disorder, were presented at this year's American Society of Hematology (ASH) annual meeting.

Affecting approximately 9.5 per 100,000 people in the US, ITP is characterised by low platelet counts resulting from both increased platelet destruction and decreased platelet production.

The disease can cause bruising and bleeding, which can include potentially life-threatening episodes such as intracranial haemorrhage, as well as arterial or venous thrombosis.

LUNA 3 met its primary endpoint, with twice-daily rilzabrutinib demonstrating durable platelet response in 23% of ITP adult patients compared to 0% in the placebo arm. This was defined as the proportion of patients able to achieve platelet counts at or above 50,000/μL for at least eight out of the last 12 weeks of the 24-week blinded treatment period in the absence of rescue therapy.

Platelet response was achieved in 65% of rilzabrutinib-treated patients compared to 33% of patients on placebo and, for the combined 24-week double-blind and 28-week open-label periods, durable response was achieved in 29% of those in the rilzabrutinib group as of the data cutoff.

Significant improvements were also observed with rilzabrutinib versus placebo in reduced bleeding, the need for rescue therapy use, and improved physical fatigue and quality of life measures.

Dietmar Berger, chief medical officer, global head of development at Sanofi, said: "This new data supports the potential of rilzabrutinib to provide robust and durable platelet response in ITP, offering hope for patients with limited treatment options.

"Based on its ability to target BTK, an enzyme that plays a critical role in many types of immune cells, we believe rilzabrutinib also has the potential to improve patient outcomes in multiple rare blood and autoimmune disorders."

Beyond ITP, rilzabrutinib is being studied across a variety of immune-mediated diseases, including warm autoimmune haemolytic anaemia, asthma and chronic spontaneous urticaria.

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