Rare Disease

Clonal cytopenias of undetermined significance often manifest prior to myelodysplastic syndromes (MDS), and a recent study found similarities in the cytokine profiles of the distinct conditions.

The combination regimen delivered better overall survival and response rates among patients with myelodysplastic syndromes (MDS).

Hypomethylating agents are a widely used treatment option in acute myeloid leukemia secondary to myeloproliferative neoplasms (MPNs), but careful monitoring of thromboembolic risk is needed for optimal outcomes.

A recent study identified trends in blood counts, but did not find statistically significant associations between achieving hematological remission and clinical outcomes in polycythemia vera (PV) or essential thrombocythemia (ET).

Multisystem inflammatory syndrome (MIS) in children is a rare condition known to be associated with COVID-19, but more research is needed to identify at-risk patients and guide public health interventions.

Research presented at the 2022 American Society of Clinical Oncology Annual Meeting shows White patients with myelodysplastic syndrome (MDS) have worse overall survival outcomes than African American patients, contrary to previous findings in other cancer types.

The FDA released an action plan to address the Accelerating Access to Critical Therapies for ALS (amyotrophic lateral sclerosis) Act.

People with rare diseases experience significant diagnostic delays, high out-of-pocket costs, travel burden for specialty care, and insufficient dental and psychological support, according to new findings.

Transfusion dependence is common for patients with myelodysplastic syndromes (MDS), but real-world data show inconsistent patient experiences and varied transfusion practices between countries.

Physicians should consider measuring anti-endothelial cell antibodies in patients with polycythemia vera, the investigators suggested.

Study data are mixed, but some evidence suggests the administration of vitamin D may work as a low-risk prophylactic against graft-versus-host disease (GVHD).

Preventing graft-versus-host disease (GVHD) after allogeneic stem cell transplant is a key aspect of patient management, but current cyclosporine concentration guidelines may not be sufficient, according to a recent study.

A recent study aimed to provide insight and guidance for managing graft-versus-host disease in patients after liver transplantation.

A recent study found positive associations between the organic matter component of particulate matter and disease aggravation in amyotrophic lateral sclerosis (ALS).

A small study aimed to increase the likelihood of detecting minor neurological symptoms of spinal muscular atrophy via a combination of tests specifically suited to newborns.

A survey of blood and bone marrow transplant patients found that many who fit current criteria for ocular graft-versus-host disease have not been diagnosed.

Fine-tuning clinical phenotypes and identifying effective treatments remain challenging in chronic lung allograft dysfunction (CLAD) after lung transplantation and chronic graft-versus-host disease (GVHD) after allogeneic hematopoietic stem-cell transplantation.

A retrospective study assessed hospital readmission rates in patients with sickle cell disease and acute chest syndrome who took angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers vs those who did not.

In an effort to bolster development of treatments for rare diseases, the FDA announced the creation of the new Accelerating Rare disease Cures (ARC) program.

Polycythemia vera and essential thrombocythemia are both slow-progressing conditions and treated mainly with symptom management, but novel agents and gene targets have changed the landscape in recent years.

On this episode of Managed Care Cast, Ari D. Panzer, BS, lead author and researcher, then at Tufts Medical Center—now at Duke University—discusses the findings from his team’s investigation into coverage decisions by health plan insurers of the 66 drugs approved by the FDA in 2018.

After a median follow-up of 535 days, analysis showed that recurrent acute graft-versus-host disease (RaGVHD) carried several implications for survival, leading the researchers to call for further risk stratification of aGVHD.

Previous studies have shown ruxolitinib effective in symptom relief and hematocrit control for hydroxyurea-resistant polycythemia vera, but its role in disease progression is not yet clear.

The findings suggest that the tool can be used to not only assess cognitive impairment in Huntington disease (HD) but also to detect brain atrophy patterns associated with cognitive status in these patients.

A review of 41 articles indicated that leveraging zinc supplementation in patients with sickle cell disease (SCD) is a safe and potentially effective approach for these patients.