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Top 5 Most-Read Rare Disease Articles of 2023
The most-read rare disease articles include topics on increasing research and awareness on genetic and nongenetic rare diseases.
These articles reflect the growing importance of awareness, research, and new therapeutic approaches in addressing rare diseases.
Here are the top 5 most-read rare disease articles in 2023.
5. Imetelstat Prolongs Transfusion Independence, Increases Hemoglobin in R/R MDS
The phase 3 IMerge trial (NCT02598661) evaluated the efficacy of imetelstat, a direct and competitive telomerase inhibitor, in patients with heavily transfusion-dependent, non-del(5q) lower-risk myelodysplastic syndrome (MDS) that was relapsed or refractory to erythropoiesis-stimulating agents (ESAs). The trial met its primary endpoint, with patients who received imetelstat achieving statistically significant and clinically meaningful rates of red blood cell transfusion independence at 8, 16, and 24 weeks compared with those who received placebo.
Read the article here. A version of this article was originally published on OncLive®.
4. Genetic Screening Could Have Promise for Reducing Infant Deaths
A study suggests that early implementation of treatment for genetic diseases could potentially reduce infant mortality. The study identified single-locus genetic diseases in a significant proportion of infant deaths, and the researchers argued early detection and treatment of these genetic diseases could prevent some of these deaths. The findings highlighted the importance of accurate diagnosis and the potential benefits of genomic testing in understanding and addressing the causes of infant mortality.
3. Injection Site Necrosis Associated With Pneumococcal Vaccine
A study on reports in The Vaccine Adverse Event Reporting System (VAERS) related to the 23-valent pneumococcal vaccine found cases of skin necrosis as a potential adverse event following vaccination. Among 104 VAERS complaints of skin necrosis, 48 reports met the case definition, with a reporting rate of less than 0.2 cases per million vaccine doses distributed. The study concluded that while injection site necrosis occurred, the overall benefit-risk balance for the vaccine remains favorable, and the vaccine packaging has been updated to include this information in post-marketing experience.
Read the article here. A version of this article was originally published on ContagionLive®.
2. High Morbidity, Mortality Rates Seen in Long-Term Study of Infantile-Onset Pompe Disease
A long-term observational study of patients with classical infantile-onset Pompe disease (IOPD) revealed high mortality and morbidity rates over time, with a secondary decline in muscular and respiratory functions despite initial improvement with enzyme replacement therapy (ERT). The study emphasized the need for new therapeutic approaches targeting various aspects of pathogenesis to improve long-term outcomes for patients with classical IOPD.
1. Report Warns Health Care Providers of Rare Emerging Tick Bite–Associated Meat Allergy, Alpha-Gal Syndrome
A study assessed health care providers' knowledge of alpha-gal syndrome (AGS), a tick bite–associated allergic condition. The study found that 42% of respondents had never heard of AGS, and among those who were aware of it, confidence in diagnosing or managing the condition was low. The findings underscored the need for increased education and awareness among health care providers to improve the diagnosis and management of AGS, which has been underdiagnosed in the United States.
Insurance Coverage Limits JAKi Therapy Access for Patients With AA, Especially Non-White Populations
April 25th 2024A survey study showed major barriers to Janus kinase inhibitor (JAKi) therapy for patients with alopecia areata, especially for non-White patients who face higher rates of being uninsured and struggle more to afford the treatment.
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Oncology Onward: A Conversation With Dr Shereef Elnahal, Under Secretary for Health
April 20th 2023Shereef Elnahal, MD, MBA, under secretary for health at the Veterans Health Administration (VHA), sat for a conversation with our hosts Emeline Aviki, MD, MBA, Memorial Sloan Kettering Cancer Center, and Stephen Schleicher, MD, MBA, Tennessee Oncology, that covered the cancer footprint of the VHA.
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Exploring Payer Coverage Decisions Following FDA Novel Drug Approvals
May 3rd 2022On this episode of Managed Care Cast, Ari D. Panzer, BS, lead author and researcher, then at Tufts Medical Center—now at Duke University—discusses the findings from his team’s investigation into coverage decisions by health plan insurers of the 66 drugs approved by the FDA in 2018.
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