Top 5 Most-Read Rare Disease Articles of 2021

The top 5 most-read rare disease articles of 2021 on AJMC.com highlighted research on medications, therapies, and diagnosing tools to treat myelofibrosis, hemophilia B, chronic graft-vs-host disease, necrotizing myopathy, and myeloproliferative neoplasms.

Here are the top 5 rare disease articles of the year.

5. Novel Ruxolitinib Combo Shows Promise in Myelofibrosis

Part of AJMC.com’s European Hematology Association 2021 Virtual Congress coverage, this June article highlighted study results showing that the novel ruxolitinib combination resulted in early disease modification among 34 patients. These findings offer a potential treatment for patients with myelofibrosis who are on ruxolitinib monotherapy and need a different treatment option. The data also showed that nearly 1 in 3 patients achieved a 50% or more reduction in total symptom score at week 24 of the trial, and another 41% achieved the reduction at any point during the study.

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4. Gene Therapy for Hemophilia B Shows Positive Results in Phase 3 Trial

This article published in June covered uniQure’s announcement of positive 52-week data for its pivotal phase 3 HOPE-B gene therapy trial of etranacogene dezaparvovec—an investigational adeno-associated virus 5-based gene therapy—as a candidate for severe and moderately severe hemophilia B. According to uniQure, this was the largest group of patients with hemophilia B to receive a single gene therapy investigational product so far. Medicaid currently pays for about half of all hemophilia B treatments in the United States, amounting to $1.57 billion in 2019.

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3. FDA Approves Ruxolitinib for Chronic GVHD

This September article discusses the FDA approval of ruxolitinib to treat chronic graft-vs-host disease (GVHD) after failure of 1 or 2 lines of systemic therapy in patients aged 12 years and older. GVHD is a condition that can occur after an allogeneic stem cell transplant in which the donated cells initiate an immune response and attack the transplant recipient’s organs. The drug is also approved for treatment of polycythemia vera in adults who have had an inadequate response to or are intolerant of hydroxyurea and for intermediate or high-risk myelofibrosis.

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2. Researchers Detail Case of Statin-Induced Necrotizing Myositis

Immune-mediated necrotizing myopathy typically presents with progressive symmetrical proximal muscle weakness and myalgias, but this September article shows that some cases can present with respiratory and esophageal muscle weakness. Researchers shared details of a case report of a patient with statin-induced necrotizing myositis who had been on statins for 5 years. This patient presented with generalized fatigue, elevated creatine kinase levels above 2000 U/L, and elevated creatinine of 1.6 mg/dL. Testing showed that a mitosis panel was negative and anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody was positive.

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1. How Does Imaging Perform in Diagnosing MPNs?

This May article focused on a review evaluating other ways to diagnose certain myeloproliferative neoplasms other than using bone marrow biopsy results, which are invasive and costly. Although they are standard diagnosing tools, bone marrow biopsies may run the risk of sampling errors, show limited information on functional processes, and offer no clues about the liver and spleen. Results showed that although some techniques may hold promise in certain areas, a new diagnostic test will need to factor in reproducibility, safety, availability, and cost.

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