Rare Disease

The FDA approved a drug to treat a rare form of childhood epilepsy; uninsured Americans will no longer have access to free COVID-19 tests; a conservation group is suing the Environmental Protection Agency (EPA) over failure to protect rivers from pollution.

The FDA accepts an application for a drug to treat amyotriphic lateral sclerosis (ALS) for review; vaccines have been found to reduce people’s risk for developing long COVID-19; COTA announces Miruna Sasu, PhD, as its new president and CEO.

To enable a more personalized and proactive approach to pediatric antiphospholipid syndrome (APS), investigators assessed electronic medical records of 21 children.

Advances in whole genome sequencing are helpful in linking genetic variants with diseases, but the process is more challenging in cases of rare and ultra-rare diseases.

Patients with polycythemia vera (PV) or essential thrombocythemia (ET) had a higher risk of thrombotic events than the general population, which was associated with mortality in a recent study.

Pfizer will begin phase 2 and 3 trials of its COVID-19 antiviral pill in children 6 years and older; lawmakers respond after e-cigarette companies began using unregulated synthetic nicotine to get around FDA regulation; the American College of Rheumatology released a new guideline on the management of Kawasaki disease.

A new review article outlines the latest research and results into programmed cell death-1/programmed cell death ligand-1 (PD-1/PD-L1) inhibitors for the treatment of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).

Investigators sought to show how individual cases could be clarified through the use of flow cytometry analysis.

The economic burden of rare diseases based on direct, indirect, and mortality-related costs is 10 times greater than the burden for mass market diseases, such as diabetes and cardiovascular disease, and this burden increases when no treatment is available.

The prior authorization process is a hurdle to getting care for individuals with rare diseases and limited options, according to a rheumatologist and a patient interviewed just before Rare Disease Day.

A recent case report described the successful treatment of 2 young infants with PIK3CA-related overgrowth spectrum using the breast cancer drug alpelisib.

Patients with histories of inflammatory bowel disease and systemic lupus erythematosus were also at elevated risks of myelodysplastic syndromes (MDS), the authors found.

Myelodysplastic syndrome has a variety of clinical presentations, including bone marrow fibrosis. Previously, the presence of fibrosis has not been considered in disease risk scoring in MDS, but recent research suggests it may be a valuable risk factor.

An update to the ERNEST study found a survival benefit in ruxolitinib for the treatment of myelofibrosis in both the first and second line vs hydroxyurea.

The model identified risk factors after 6 months of treatment for the purposes of predicting overall survival and identifying which patients could benefit from a shift in treatment.

The drug will be marketed by Sanofi under the name Enjaymo; it is the first treatment approved for cold agglutinin disease.

Survival rates for patients with blast-phase chronic myeloid leukemia (BP-CML) are notoriously poor, necessitating effective treatments to fill the care gap for this group who often survive less than 1 year.

The top 5 most-read rare disease articles of 2021 on AJMC.com highlighted research on medications, therapies, and diagnosing tools to treat myelofibrosis, hemophilia B, chronic graft-vs-host disease, necrotizing myopathy, and myeloproliferative neoplasms.

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.