News

A Phase 1/2 clinical trial evaluating investigational therapy CTX001 for severe sickle cell disease (SCD) has enrolled its first patient in the U.S., and treatment is expected to begin by mid-2019. The trial (NCT03745287), still recruiting participants in Nashville, Tennessee, is looking to enroll 45 adults, 18 to 35 years old,…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Global Blood Therapeutics (GBT) intends to improve access to high-quality healthcare for people with sickle cell disease (SCD) in the U.S. through the recently launched Access to Excellent Care for Sickle Cell Patients Pilot Program (ACCEL). The company will donate up to $150,000 to speed the development of…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Global Blood Therapeutics (GBT) published the results from its Phase 1/2 clinical trial that tested the potential therapy voxelotor in patients with sickle cells disease (SCD). Supported by the published results, the company expects to file a new drug application under accelerated approval to the U.S. Food and Drug…

The blood-separation device Spectra Optia, which has the ability to remove abnormal red blood cells from sickle cell patients, can efficiently and safely replace these cells with healthy red blood cells from donors, a study reports. The therapeutic tool also uses less red blood cell units than regular transfusion techniques,…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The American Thoracic Society (ATS) released a set of new guidelines for home oxygen therapy for children with chronic health conditions that cause a reduction in blood oxygen levels, such as sickle cell disease. Other conditions include cystic fibrosis, bronchopulmonary dysplasia, sleep disturbed breathing, pulmonary…

For eligible sickle cell disease (SCD) patients covered by commercial insurance, biopharmaceutical company Emmaus Life Sciences will offer financial assistance to those who need help covering their monthly Endari co-payments. Emmaus is the developer of Endari (L-glutamine oral powder, and called Xyndari in Europe). In the United…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…