Rare Disease

FDA Extends Review for Pacritinib for Treatment of Myelofibrosis With Severe Thrombocytopenia

November 30th 2021, 11:20pm


CTI BioPharma's New Drug Application had previously been granted Priority Review. The PDUFA date was November 30.

Researchers Identify Novel Biomarker, Therapeutic Target for Polycythemia Vera

November 24th 2021, 12:00pm


The data set included 177 samples from polycythemia vera, essential thrombocytopenia, primary myelofibrosis, and healthy donors, from which the researchers found that MAPK14 was overexpressed in PV samples and was associated with more symptoms and worse outcomes.

Significant Amount of Patients Remain on Sick Leave 1 Year Following Allo-HSCT, Study Says

November 17th 2021, 12:20pm


The findings showed that between 2009 to 2016, 76% of the 122 patients included in the study were on sick leave a year following their allogeneic hematopoietic stem cell transplantation (allo-HSCT).

GVHD Insights Point to Importance of Immunometabolism to Control Disease

November 13th 2021, 2:40pm


According to the study authors, a growing number of findings from preclinical studies have suggested a focus on immunometabolism to modulate alloreactive donor T cell responses to control graft-versus-host disease (GVHD) and promote graft-versus-tumor effect.

Novel Treatment Approach for Ultrarare MDH2D Detailed in Patient Case

November 12th 2021, 7:00pm


To date, just 3 previous reports have detailed cases of mitochondrial malate dehydrogenase deficiency (MDH2D), and there are no known cures.

Whole Genome Sequencing Increased Discovery of Rare Disorders by 31% in UK Study

November 6th 2021, 9:33pm


The authors backed plans for the United Kingdom to establish a national diagnostic program based on whole genome sequencing (WGS) to speed the time to diagnosis.

Patients With MPNs Face Higher Cardiovascular Risks, in Addition to AML Risk

October 30th 2021, 2:19pm


A new analysis suggests physicians should be on the lookout for cardiovascular disease and other types of cancer, in addition to acute myeloid lymphom, when caring for patients with certain myeloproliferative neoplasms (MPNs).

Review: Treatment Options Expanding in GVHD After HSCT, but More Data Needed

October 26th 2021, 5:50pm


A new review article highlights some of the newest therapies available to treat graft-versus-host disease (GVHD), but the authors say there is insufficient data to draw broad conclusions.

Early Results of Gene Therapy for Angelman Syndrome Look Promising

October 23rd 2021, 11:10am


Angelman syndrome affects roughly 1 in every 20,000 children and it has no approved treatment.

Health Care Costs for Patients With Rare Disease Greater Than Previously Estimated

October 22nd 2021, 11:55pm


Health care costs are 3 to 5 times greater for people with rare diseases compared with those without, according to a new study.