Rare Disease

Data from a phase 3 trial are supporting the use of tezacaftor in combination with ivacaftor for the treatment of cystic fibrosis (CF) in children aged 6 to 11 years, finding that the treatment combination was generally safe and well tolerated.

A study comparing the efficacy of burosumab with conventional treatment—oral phosphate and active vitamin D—found that burosumab, which blocks FGF23, was significantly more effective in alleviating symptoms.

A recent study examined the association between patients with secondary myelofibrosis (SMF) and later development of nonhematological second primary malignancies (SPM).

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.