Rare Disease

The management of myeloproliferative neoplasms (MPNs) in adolescent and young adult (AYA) patients is currently similar to that of older patients. However, comprehensive research is needed to form guidelines for this younger population.

Olipudase alfa (Xenpozyme) was granted FDA approval for patients with Acid Sphingomyelinase Deficiency (ASMD); Moderna and Pfizer-BioNTech’s bivalent COVID-19 vaccines are each authorized for use as a booster dose; people with type A blood have an 18% higher risk of stroke before age 60, compared with other blood types.

The FDA Friday approved pemigatinib (Pemazyre), a selective fibroblast growth factor (FGFR) inhibitor, to treat adults who have relapsed or refractory (R/R) myeloid/lymphoid neoplasms (MLNs) with FGFR1 rearrangement, a very rare and aggressive cancer.

Systemic mastocytosis and mast cell activation syndrome both negatively impact health-related quality of life (HRQOL), with mast cell activation syndrome patients reporting more significant impacts on everyday life.

Early genomic testing could identify the children who are most at risk and provide opportunities to intervene as early as possible.

The rarity of sinonasal cancers presents various challenges for advancing disease management.

The recommendations follow the World Health Organization’s recent update to its classifications of central nervous system (CNS) tumors to now include a structure for pediatric patients with CNS tumors.

Despite the known potential benefits of newborn screening, the exact long-term clinical benefits and cost-effectiveness in large cohorts remain uncertain due to a lack of large-scale longitudinal research.

For the first time, the CDC has identified in Mississippi dirt and water samples a bacteria that causes a rare and sometimes fatal disease called melioidosis, which is common in low-income tropical countries and one that scientists have been warning about for several years.

A recent survey of patients with urticarial vasculitis found that quality-of-life (QOL) impairment is an important factor to consider when putting disease management plans in place.

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.