Rare Disease

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.

Therapies for rare diseases, such as gene therapy, pose very unique challenges to value assessments in a variety of different ways, explained Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders.

The FDA approved ruxolitinib (Jakafi) for another indication, this time for the treatment of steroid-refractory acute graft-versus-host disease in adult and pediatric patients 12 years and older.

A study combining ruxolitinib and buparlisib in myelofibrosis showed only a modest benefit compared with ruxolitinib alone, and further studies to see if there is a synergistic effect between the 2 agents will not continue.