The Rare Disease Report page is a resource for medical news and expert insights on rare diseases. This page features expert-led coverage, articles, videos and research on the therapies and development of treatments for sickle cell disease, multiple myeloma, and more.
With World Sickle Cell Day approaching, Dr. Titi Fasipe reflects on the developments within the field, such as the continued conversation of disparities and the increased comfort level with new therapies.
Some of the favorable responses to voxelotor treatment and signs of hematologic response after voxelotor treatment included increased Hb levels, decreased reticulocyte percentage, and decreased total bilirubin.
In a late-breaking presentation at ASGCT 2022, investigators shared preclinical results of a gene-editing strategy that seeks to reactivate developmentally silenced fetal hemoglobin (HbF, α2γ2) in order to replace defective sickle hemoglobin (HbS, α2βS2).
Isatuximab in combination with carfilzomib and dexamethasone (Kd) demonstrate the longest median progression free survival (mPFS) on a proteasome inhibitor backbone in multiple myeloma patients who relapsed after a prior therapy, including lenalidomide.
With this new decade-long cohort, Dr. Chen notes that researchers are "one step closer to a more accurate view of what sarcoidosis may be like in the United States", with has been suggested to be more prominent in African American communities.
Investigators who say that assessing vaso-occlusive crises solely through medical utilization doesn’t provide a full picture of the SCD experience because many VOCs are managed from home, are now backed by research.
Dr. Carolyn Rowley is leading the California Sickle Cell Disease Mental Health and Wellness Initiative to provide mental health services free to people living with sickle cell disease.
A systematic literature review highlighted key risk factors that could constitute a risk assessment model for hemophilia bleeding—a currently lacking guidance for clinicians.