News

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

Patients with hemophilia B are reporting a mostly positive response to treatment with Ixinity (recombinant coagulation factor IX), according to new data from Aptevo Therapeutics, the therapy’s maker. The company presented the patient-reported outcomes data at the recent Thrombosis and Hemostasis 2018 Summit of North America in San Diego. The event is…

Sigilon Therapeutics’s Afibromer SIG-003 candidate for the long-term treatment of patients with hemophilia B recently received an Advanced Therapy Medicinal Product (ATMP) designation in the European Union. The designation was granted by the Committee for Advanced Therapies of…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

The National Hemophilia Foundation (NHF) kicked off its 70th anniversary with an advocacy effort on Capitol Hill in Washington, D.C. At the same time, the NHF launched its 2018 Red Tie Campaign  to raise awareness about Bleeding Disorders Awareness Month and reinforces its campaign to oppose the U.S. Congress’ efforts to terminate…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Workers with hemophilia are at a much higher risk of stroke, developing a joint disease, or needing a knee or hip replacement than the general population, Taiwanese researchers report. The study, “Risk of major comorbidities among workers with hemophilia: A 14-year population-based study,” was published in the journal…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Researchers report that the Medtep Hemophilia online platform helped hemophilia patients improve their adherence to preventive treatment, while increasing their quality of life and their perception of their illness. The study titled, “Effectiveness of the Medtep Hemophilia online platform for adherence to prophylactic treatment…

myPKFiT for Advate, a free web-based software designed to personalize and assess preventive dosing regimens for some hemophilia A patients treated with Advate, is now available in the U.S. MyPKFiT for Advate is the first and only pharmacokinetic (PK) dosing software approved by the U.S. Food and Drug Administration (FDA)…