Rare Disease

Reflecting on a year of breakthrough advancements in the treatment of rare, difficult to treat cancers, the American Society of Clinical Oncology (ASCO) has named “Progress in Treating Rare Cancers” as the Advance of the Year.

A recent study reports that monocytes from patients with myeloproliferative neoplasms (MPNs) have a defective negative regulation of Toll-like receptor (TLR) signaling that allows for the unrestrained production of tumor necrosis factor alpha after TLR activation. Additionally, the authors write that TLR signaling not only contributes to chronic inflammation in patients with MPN, but also may predispose individuals to acquire MPNs.

Patients with mitochondrial disease have a significantly higher cost burden compared with the general population, according to the results of a recent retrospective claims analysis.

The FDA has issued an update to its 2015 draft guidance on developing drugs to treat rare diseases.

A recent review explores the current understanding of the molecular effects of ruxolitinib and its place in the evolving landscape for the treatment of myeloproliferative neoplasms (MPNs).

Patients with progressive, symptomatic, or recurrent desmoid tumors who received sorafenib have significantly improved progression-free survival (PFS) rates at 1 and 2 years compared with patients who received placebo, according to the results of a recent phase 3 trial.

One-time curative treatments provide a huge challenge to health systems that were not created with them in mind. Despite having no approved treatments, bluebird bio has proactively released a model to pay for these one-time cures in a way that provides value to patients and the health system.

While a common genetic mutation among patients with polycythemia vera (PV) is V617F in exon 14 of the Janus kinase 2 (JAK2) gene—which activates the tyrosine kinase—it has been reported that patients with V617F-negative PV have mutations in exon 12 of JAK2. Exon 12 mutations are involved in approximately 3% of patients with PV, and these patients often have reduced erythroblasts in the bone marrow and hypercellular bone marrow.

January 4 marks the anniversary of the Orphan Drug Act, which was enacted in 1983. Since the law was passed, it has successfully encouraged more orphan drug development, but some now say drug makers are manipulating the system and the incentives need to be revisited.

A phase 1 trial by showed that decitabine with ruxolitinib was generally well tolerated and displayed promising clinical efficacy in patients with accelerated or blast-phase myeloproliferative neoplasms (MPN-AP/BP).

The FDA has approved Stemline Therapeutics’ tagraxofusp-erzs (Elzonris), the first drug approved to treat blastic plasmacytoid dendritic cell neoplasm (BPDCN) in adults and in pediatric patients aged 2 years or older.

The Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act of 2018, which reauthorizes a sickle cell disease prevention and treatment program and provides grants for research, surveillance, prevention, and treatment of heritable blood disorders, has passed Congress and been signed into law.

Males with myeloproliferative neoplasms have worse survival compared with females with MPN, even when adjusted for age at presentation, presenting phenotype, and molecular characteristics.

Faulty glia cells in the brain may trigger Huntington disease (HD), a finding that may potentially create a path for new treatments and therapies, according to a recent study in Cell Stem Cell.

The observational, noninterventional study was part of an emicizumab clinical development program in which a daily bleed and medication questionnaire developed by the sponsor on a handheld device was used to prospectively collect data on treatment with factor VIII or bypassing agents in adult and adolescent people with hemophilia A, with and without inhibitors to FVIII.

According to a study results presented at the 60th American Society of Hematology Annual Meeting & Exposition, the use of opioid medications for pain control in sickle cell disease (SCD) is relatively safe, and there has been no associated increase in hospital SCD mortality.

A literatur survey concludes that the efficacy of recombinant activated factor VII administered by continuous infusion (rFVIIa CI) in patients with congenital hemophilia with inhibitors or congenital factor VII deficiency undergoing surgery and during bleeding episodes appears to be high and comparable to that of rFVIIa delivered by bolus injection.

The researchers wrote that theirs was the first such study to document the greater antithrombotic protection of hydroxyurea over PHL against arterial thrombosis. They also found that the 2 treatments lent similar protection from venous thrombosis.

A new study published in Nature Genetics suggests there may be new ways for personalized and precise treatment of acute myeloid leukemia (AML) that could increase the chances of survival in patients with this aggressive cancer of the white blood cells.

Pulmonary hypertension (PH) has been reported to be associated with myeloproliferative neoplasms (MPN) in 5% to 48% of MPN patients. Now, authors of the largest PH study in patients with Philadelphia chromosome-negative MPN have concluded that the prevalence of PH is lower than has been previously reported.

The British Society for Haematology has released a new updated guideline that offers practical guidance for the management of specific situations and complications of polycythemia vera and outlines management of the diverse types of secondary erythrocytosis.

There have been few therapeutic options for treating thrombocytopenia in MDS patients. Now, early phase data suggest that CC-486 (oral azacytidine, an investigational drug sponsored by Celgene) is a relatively safe and effective treatment for thrombocytopenic patients with MDS.

Treatment of acute myeloid leukemia (AML) has remained a challenge, partly because of an insufficient understanding of the molecular mechanisms that promote and maintain the leukemic state of AML cells.

Treatment with the investigational drug crizanlizumab (SEG101) reduced pain in patients with sickle cell disease (SCD) who were experiencing vaso-occlusive crisis according to posthoc results of the phase II SUSTAIN study published online in The American Journal of Hematology. The study found that more than twice as many patients with SCD treated with crizanlizumab did not experience a VOC compared with those treated with placebo.

If the trial is successful, venglustat could be the first treatment to target the mechanism of action in autosomal dominant polycystic kidney disease (PKD), which affects 120,000 people in the United States.