Rare Disease

Since 1930, there have been fewer than 1000 cases of the disease reported around the world.

The advent of gene therapies, which can target specific variants, means pinpointing the genetic roots of each patient’s disease has taken on new importance, researchers said.

Misdiagnosis was common in these patients, and mean time to diagnosis was around 5 years.

Patients with the rare disease typically present with hypertrophic cardiomyopathy and muscular hypotonia before the age of 1.

Treatment with the first-in-class direct and competitive telomerase inhibitor imetelstat resulted in statistically significant and clinically meaningful efficacy in patients with heavily transfusion dependent, non-del(5q) lower-risk myelodysplastic syndrome that is relapsed or refractory to erythropoiesis stimulating agents, according to findings from the phase 3 IMerge trial.

The decreasing cost of DNA sequencing has contributed to an uptick in genomic sequencing for precision diagnostics in rare diseases.

Results are based on a study of low-dose interleukin-2 (IL-2) carried out at Dana-Farber Cancer Institute.

Data suggest a substantial reliance on established therapies for polycythemia vera, despite access to all available treatment options.

In addition to current available risk scores, the new system can help counsel patients with myelofibrosis (MF) undergoing allogeneic hematopoietic stem cell transplantation (allo-HCT), authors wrote.

Clinicians treating patients with polycythemia vera are too reliant upon phlebotomy, data suggest.

The data show how disease-modifying therapies are changing outcomes for children with spinal muscular atrophy (SMA), a rare neuromuscular disease.

More information is needed to better understand variations in how the drug affects individual patients.

Equity has to be made front and center in conversations about value assessment, otherwise all stakeholders will continue waiting for someone else to make the first move, said one panelist at the Value-Based Insurance Design Summit.

The patient sought care for a mass in her right buttock, but had no tonsillar symptoms.

Patients with myelofibrosis (MF) with single-hit mutations had similar outcomes to patients with wild-type TP53.

Older age was also a risk factor for hospitalization and death in patients with myeloproliferative neoplasms (MPN) who contract COVID-19, the investigators found.

The risk of second malignancy was similar among patients aged 66 and older who were treated with and without hydroxyurea.

Lower levels of certain biomarkers were predictive of treatment response for graft-versus-host disease (GVHD) at day 28, investigators found.

Patients who had ruxolitinib added to their prophylactic regimens had lower rates of acute and chronic graft-versus-host disease (GVHD).

A new report found only about 2.8% of people with myelodysplastic syndromes (MDS) have JAK2 mutations.

The EASIX scoring system should not be used to predict outcomes following allogeneic stem cell transplantation (alloSCT) in patients with myelofibrosis.

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.

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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.