Top 5 Most-Read Rare Disease Articles of 2023

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.

Read the article here.

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.

Read the article here.

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.

Read the article here.