Rare Disease

The risk of death among people with primary myelofibrosis (PMF) dropped by 53% after ruxolitinib’s introduction, the study found, although the data also suggested only 8.5% of patients were prescribed the drug.

The FDA approved the first drug for the rare disease Friedreich’s ataxia; House Republicans seek information from pharmacy benefit managers (PBMs); FDA panel narrowly supports respiratory syncytial virus (RSV) vaccine for older adults.

The Polycystic Kidney Disease Foundation and IQVIA are partners in the development of the ADPKD Registry, which is tracking longitudinal quality-of-life information from patients across North America.

Features of polycythemia vera (PV) can easily be misattributed to other causes, such as iron depletion or arterial hypertension.

The study also found, however, that transplant outcomes appear to be worse for Black African American patients who have primary myelofibrosis (PMF), although the study utilized a small sample size.

Patients with myelofibrosis (MF) who achieved a spleen response while taking ruxolitinib and lost it had survival outcomes similar to patients who did not respond, according to results from a real-world study.

The results of the futility analysis also suggest the therapy leads to significant clinical benefits.

Evidence suggests as many as 29% of people with myeloproliferative neoplasms (MPN) or myelodysplastic syndrome (MDS)/MPN have chronic kidney disease.

An analysis of 112 infant deaths found that the contribution of genetic diseases to mortality was higher than previously known, and that treatments are available for 30% of the genetic diseases uncovered by the study.

At the start of the COVID-19 pandemic, high levels of distress, overwhelm with daily problems, and unmet psychosocial information needs decreased caregiver-reported health-related quality of life in children with rare diseases.

Researchers explored the case of a 40-year-old woman with polycythemia vera (PV) who developed a portal vein occlusion 1.5 months postpartum after C-section.

High bleeding risk was seen among patients hospitalized with acute myocardial infarction (AMI) who had essential thrombocythemia (ET), particularly those treated with percutaneous coronary intervention.

Evidence-Based Oncology™️ spoke with Lyons about the creation of this real-world data set and the pros and cons of different treatments for MDS.

A new review article shows how technologies like next-generation sequencing might help clinicians tailor care for myelodysplastic syndromes (MDS).

Data from the secondary analysis show that the improvements seen in health-related quality of life (HRQOL) translated into clinical improvements.

The most-read rare disease articles of the year included the topics of new pediatric central nervous system tumor guidelines, graft versus host disease, the contribution of gene variants to pediatric neuropsychiatric conditions, and hope for patients with blast-phase chronic myeloid leukemia.

Although rare, stiff person syndrome spectrum disorders can significantly affect patient quality of life, and current knowledge gaps warrant further research.

A multicenter study supports the use of ruxolitinib in steroid-refractory and steroid-dependent chronic graft-versus-host disease, adding to promising clinical trial findings.

The report is the first recorded case of acute respiratory distress syndrome (ARDS) that required venovenous extracorporeal membrane oxygenation and was complicated by spontaneous spleen rupture.

Although the understanding of chronic graft-versus-host disease (GVHD) has improved in recent years, more work is needed to facilitate personalized treatments for patients after hematopoietic stem cell transplantation (HSCT).

A recent study supports the notion that non–driver mutations in essential thrombocythemia (ET) and polycythemia vera (PV) have predictive value and found that a proposed international prognostication model may be useful for Japanese patients.

JAK2-unmutated erythrocytosis has a variety of etiologies, and identifying the underlying cause may prove helpful in cases where it is secondary to another condition such as polycythemia vera.

Although no pharmacological treatment offers long-term efficacy or extends survival with Huntington disease at this point, research suggests that stem-cell therapy holds promise in this and other neurodegenerative diseases.

Despite the use of therapies to address the clinical manifestations of myelofibrosis (MF) and essential thrombocythemia (ET), the symptom burdens of these conditions continue to negatively affect patient quality of life (QOL).

The review highlighted key diagnostic and treatment considerations for patients with splanchnic vein thrombosis and myeloproliferative neoplasms.

The authors propose conducting a scenario analysis for interventions to treat rare diseases by varying health plan size to demonstrate the variability of potential budget impact.

A decision to rename myeloproliferative neoplasms led to a plethora of developments in a space where there was once little interest.

The gene therapy is the first treatment for active cerebral adrenoleukodystrophy, a fatal neurodegenerative disease that affects boys.

A review published in Frontiers in Oncology explored the application of allo-SCT for myelodysplastic syndromes and myeloproliferative neoplasms.

A Texas judge ruled that HIV pre-exposure prophylaxis (PrEP) coverage under the Affordable Care Act is unconstitutional; an FDA advisory panel recommended the approval of an experimental drug for amyotrophic lateral sclerosis (ALS); Walmart and UnitedHealth Group are collaborating to provide preventive health care for older Americans.