News

Researchers found that inhaled corticosteroids (ICS) given at the time of hospital admission did not improve outcomes in children with sickle cell disease (SCD)-associated acute chest syndrome. The study, “Early initiation of inhaled corticosteroids does not decrease acute chest syndrome morbidity in pediatric…

Patients with sickle cell disease show the highest rates of readmission and hospitalization within 30 days of being discharged from an emergency department, a single-center study found. The study, “Patients Discharged From the Emergency Department After Referral for Hospitalist Admission,” was published in The American Journal of Managed…

Negative experiences with a racial connotation are common among adolescents and young adults with sickle cell disease (SCD), Connecticut Children’s Medical Center researchers showed in a recent study. In the United States, sickle cell affects mainly African-Americans, and is historically perceived in the medical community as a “black disease.”…

Researchers found that a new conditioning regimen for adult sickle cell disease (SCD) patients undergoing allogeneic peripheral blood stem cell transplantation (allo-PSCT) shows remarkable success in preventing the immune system from reacting against the treatment, a condition known as graft-versus-host disease. The study detailing that finding, “Allogenic peripheral stem…

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,…

The European Medicines Agency (EMA) has signaled that it is ready to begin reviewing Emmaus Life Sciences’ Xyndari as a possible treatment for sickle cell disease (SCD). The signal was the agency’s validation of the company’s marketing authorization application (MAA) for Xyndari. Xyndari increases the amount of free glutamine in the…

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…

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…

A gene editing technology called CRISPR/Cas9 repaired 20 to 40 percent of stem and progenitor cells obtained from sickle cell disease patients, scientists report, suggesting such an approach might offer a way of treating this disease. Sickle cell anemia is the most severe type of sickle cell disease, which is…

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…