Rare Disease

Coverage of our peer-reviewed research and news reporting in the healthcare and mainstream press.

The FDA approved a fourth indication for Alexion Pharmaceuticals’ brand-name eculizumab (Soliris) for the treatment of neuromyelitis optica spectrum disorder (NMOSD) in adult patients who are anti-aquaporin-4 (AQP4) antibody positive.

Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders, discusses factors that have historically been underrepresented in value assessment frameworks for rare disease therapies.

Adding hydroxyurea to the selective inhibitor of Janus kinase 1 and 2 could elicit a high clinical response and increased ruxolitinib exposure for patients with hyperproliferative forms of myelofibrosis.

Researchers recently conducted a systematic review and meta-analysis to examine whether leukocytosis is a risk factor for thrombosis in patients with myeloproliferative neoplasms.

A recent literature review, involving an international multidisciplinary panel of social and healthcare professionals and people living with epidermolysis bullosa (EB), was conducted to create evidence-based guidelines to optimize psychosocial well-being in EB, given that there is no cure or treatment.

Starting 2020, employees will be able to use health reimbursement arrangements (HRAs) to purchase individual coverage; New York has enacted legislation that ends nonmedical exemptions for school vaccination requirements; the FDA is being sued by Catalyst Pharmaceuticals over its approval of a similar orphan drug.

There is generally a greater willingness to pay among just about everybody for rare disease therapies, explained Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders.

A recent study found that patients with sickle cell who had more frequent or severe vaso-occlusive crises (VOCs) had greater absenteeism, overall productivity loss, and activity impairment than patients with less frequent or severe VOCs.

A pilot study is suggesting that ruxolitinib is safe and tolerable as maintenance therapy following allogeneic stem cell transplantation.