Top 5 Most-Read Rare Disease Stories of 2020

The top 5 most-read stories of 2020 about rare diseases on focused mainly on new and noteworthy treatment options for a variety of conditions.

The top 5 most-read stories on rare diseases of 2020 on included results from several studies on new and current treatments for a variety of diseases.

The effects of ruxolitinib on infection risk and overall response rate, when combined with decitabine, were the focus of 2 of our top 5 stories, both showing positive results in certain patients with myeloproliferative neoplasms (MPNs). The FDA’s report on new treatments, as well as their approval of pemigatinib, also drew a lot of attention, as they explored new treatment options for patients with rare conditions.

Lastly, Lametra Scott, PharmD, gave some insight into the components and concerns associated with sickle cell disease (SCD).

5. Dr Lametra Scott Discusses the Mechanics of SCD

In an interview with, Lametra Scott, PharmD, CCHP, chief executive officer of Breaking The Sickle Cell Cycle Foundation Inc, discussed the pathophysiology of SCD and how the hemolysis and basal occlusion associated with it can be dangerous for patients and affect the entire body.

Watch the full interview.

4. Ruxolitinib, Decitabine Combo Effective, Well Tolerated in Patients With MPN-AP/BP

A phase 2 study evaluating patients’ with MPNs response to ruxolitinib and decitabine showed that the combination of the 2 products is well tolerated and elicited an overall response rate of 44% and median overall survival of 9.5 months. The study also found that the drug grouping reduced patients’ spleen size by a median of 70.5%. The findings suggest that this combination could be a viable low-intensity treatment option for this high-risk group of patients.

Read the full article.

3. FDA Drug Approvals Report for 2019 Highlights New Treatments for Rare Diseases

In January, the FDA’s Center for Drug Evaluation and Research released its annual 2019 report outlining new drug treatments for rare diseases that have been approved or marketed. The report included information on numerous approvals for treatment options targeting cystic fibrosis, tenosynovial giant cell tumor, and SCD. Some approvals were for treatments used to assist patients with erythropoietic protoporphyria, neuromyelitis optica spectrum disorder, systemic sclerosis-associated interstitial lung disease, and Duchenne muscular dystrophy.

Read the full article.

2. Risk of Ruxolitinib-Associated Infection Generally Lower for PV Than MF

A literature review demonstrated that the risk of infection with ruxolitinib is lower for patients with polycythemia vera (PV) than for patients with myelofibrosis (MF). However, there were also no fundamental differences in recommendations for preventing complications for patients with PV being treated with ruxolitinib versus patients with MF. Researchers said that the majority of data available on infection risks associated with ruxolitinib across MPNs is available for patients with MF because of their higher infection rates.

Read the full article.

1. FDA Approves Orphan Drug Pemigatinib for Rare Bile Duct Cancer Cholangiocarcinoma

The top story for rare disease was the FDA approval of pemigatinib, an oral kinase inhibitor, for the treatment of adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with a fibroblast growth factor receptor 2 fusion or other rearrangement. Pemigatinib is the first targeted therapy for patients with cholangiocarcinoma, who are often diagnosed at a late or advanced stage with poor prognosis.

Read the full article.

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