Rare Disease

As the pandemic wore on, fewer patients with sickle cell disease who did contract COVID-19 needed to be hospitalized.

The oral polymerization inhibitor, a first-in-class therapy for sickle cell disease, was first approved by the FDA for adults and pediatric patients 12 years of age and older in 2019.

In a recent case report, researchers outlined the case of a patients with shellfish allergy–induced overlap chronic graft versus host disease (ocGVHD)—a case of GVHD that has components of both acute and chronic GVHD.

Despite the increase in relapse risk, 2-year survival for patients with graft-versus-host disease (GVHD) who received matched sibling donor (MSD) allogeneic hematopoietic cell transplant (allo-HCT) administered post-transplant cyclophosphamide remained similar compared with patients receiving cyclosporine A with methotrexate prophylactically.

Fifty-one therapies have been approved for rare neurological diseases since the FDA passed the Orphan Drug Act in 1983.

According to the researchers, the case study suggests that better results are achieved when using cytoreductive treatment and low-dose aspirin.

CTI BioPharma's New Drug Application had previously been granted Priority Review. The PDUFA date was November 30.

The data set included 177 samples from polycythemia vera, essential thrombocytopenia, primary myelofibrosis, and healthy donors, from which the researchers found that MAPK14 was overexpressed in PV samples and was associated with more symptoms and worse outcomes.

The findings showed that between 2009 to 2016, 76% of the 122 patients included in the study were on sick leave a year following their allogeneic hematopoietic stem cell transplantation (allo-HSCT).

According to the study authors, a growing number of findings from preclinical studies have suggested a focus on immunometabolism to modulate alloreactive donor T cell responses to control graft-versus-host disease (GVHD) and promote graft-versus-tumor effect.

To date, just 3 previous reports have detailed cases of mitochondrial malate dehydrogenase deficiency (MDH2D), and there are no known cures.

The authors backed plans for the United Kingdom to establish a national diagnostic program based on whole genome sequencing (WGS) to speed the time to diagnosis.

A new analysis suggests physicians should be on the lookout for cardiovascular disease and other types of cancer, in addition to acute myeloid lymphom, when caring for patients with certain myeloproliferative neoplasms (MPNs).

A new review article highlights some of the newest therapies available to treat graft-versus-host disease (GVHD), but the authors say there is insufficient data to draw broad conclusions.

Angelman syndrome affects roughly 1 in every 20,000 children and it has no approved treatment.

Health care costs are 3 to 5 times greater for people with rare diseases compared with those without, according to a new study.

The product, called Rethymic, is composed of human allogeneic thymus tissue that is processed and cultured and then implanted into children born without a thymus to help reconstitute immunity.

Research presented at EHA2021 shows that the JAK 1/2 inhibitor ruxolitinib produced cost-effective benefits per quality-adjusted life-year and increased the overall survival rate for patients with myelofibrosis.

Despite excellent prognoses in low-risk patients with essential thrombocytopenia (ET) and polycythemia vera (PV), knowledge gaps remain and novel, more tolerable therapies require reevaluation of treatment algorithms.

This new analysis of 5-year data on a novel gene therapy from PTC Therapeutics shows both cognitive and motor function improvement in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare central nervous system disorder.

Immune-mediated necrotizing myopathy typically presents with progressive symmetrical proximal muscle weakness and myalgias, although some cases can present with respiratory and esophageal muscle weakness, as seen in this reported case study.

Chronic graft-vs-host disease (GVHD) is a condition that can occur after an allogeneic stem cell transplant in which the donated cells initiate an immune response and attack the transplant recipient’s organs.

The study of 36 patients showed a response rate of 59% at 3 months, which increased to 62% at 6 months.

The data offer novel insights, as comparable data on the drug class is scarce despite 2 JAK inhibitors being approved for use in myelofibrosis and others showing promise.

Complications of note in patients with myeloproliferative neoplasm (MPNs) include ischemic stroke, intracerebral and subarachnoid hemorrhage, microbleeds, posterior reversible encephalopathy syndrome, and dural sinus and cerebral vein thrombosis.