Rare Disease

The top 5 most-read stories of 2020 about rare diseases on AJMC.com focused mainly on new and noteworthy treatment options for a variety of conditions.

Clarence Moore, PharmD, BCPS, BCOP, assistant professor at Shenandoah University in Ashburn, Virginia, discusses whether treatment methods for beta thalassemia are accessible to patients.

AstraZeneca has agreed to acquire Alexion Pharmaceuticals for $39 billion; CDC issues coronavirus disease 2019 (COVID-19) vaccine guidance for those with a history of severe reactions to vaccines; 2.9 million COVID-19 vaccine doses began traveling this past weekend to all 50 states.

Clarence Moore, PharmD, BCPS, BCOP, assistant professor at Shenandoah University in Ashburn, Virginia, discusses how stem cell therapy and heart health can help patients manage beta thalassemia.

A funding dispute over how to account for a Veterans Affairs (VA) health care program is stalling deal to fund the government for another year; the Supreme Court rules in a case involving states and pharmacy benefit managers (PBMs); the antiepileptic drug ezogabine lowered the pathologic excitability of cortical and spinal motor neuron cells, which have a role in amyotrophic lateral sclerosis (ALS).

Researchers identified new genetic associations that can predict individuals’ susceptibility to Takayasu arteritis, a rare type of vasculitis.

The new data provide hope that the therapy will prove effective for a patient group with limited options.

Avazo-Healthcare warned by the FDA about its coronavirus disease 2019 (COVID-19) testing kits; Pfizer, BioNTech get first COVID-19 vaccine approval; risk for Guillan-Barré syndrome from flu vaccine deemed insignificant.

A new dose-finding study found a twice-daily 200 mg dose of the JAK2/IRAK1 inhibitor pacrinitib led to a spleen volume response in nearly 1 in 10 patients.

Clarence Moore, PharmD, BCPS, BCOP, assistant professor at Shenandoah University in Ashburn, Virginia, discusses a new treatment option for beta thalassemia.

Research behind the therapy could lead to other discoveries about heart disease as well as the aging process.

Clarence Moore, PharmD, BCPS, BCOP, assistant professor at Shenandoah University in Ashburn, Virginia, discussed the potential complications for patients with beta thalassemia associated with iron overload and the significance of chelation therapy.

The treatment combination demonstrated an overall response rate of 44% and median overall survival of 9.5 months.

For patients with polycythemia vera (PV), there are no differences in recommendations for preventing complications when using ruxolitinib than for myelofibrosis (MF).

Lametra Scott, PharmD, CCHP, CEO of Breaking The Sickle Cell Cycle Foundation Inc discusses the current standard of care in sickle cell disease (SCD) and the unmet needs facing patients.

A group of patient advocacy organizations released their 100-day agenda for the next president.

Lametra Scott, PharmD, CCHP, CEO of Breaking The Sickle Cell Cycle Foundation Inc, discussed the pathophysiology of sickle cell disease (SCD) the dangers of leaving it untreated.

Findings from a retrospective analysis support the use of splenectomy for patients with progressive disease and large splenomegaly.

Their study outlines several treatments being investigated for the treatment of patients with myelofibrosis and other myeloproliferative neoplasms, generally after they have become resistant or intolerant to Janus kinase inhibition.

New findings from a small study are suggesting that time to leukemic transformation may be driven by distinct time-dependent molecular mechanisms.

Results from a large international survey indicated that depression worsened the systemic symptom burden for patients.

Orphan drug spending to treat rare conditions in children is increasingly burdening payers and families, a recent study said.

Researchers identified 3 groups with distinctive patterns of overall survival (OS), among which they determined additional prognostic value in patients with <5% bone marrow blasts.

The study of over 8000 patients with myeloproliferative neoplasms (MPNs) also found that these patients were 40% more likely to have a prior diagnosis of inflammatory bowel disease (IBD).

Historically, there has been a lack of understanding around clinical and laboratory features and prognostic factors for children with myeloproliferative neoplasms (MPNs), as MPNs are especially rare in this patient population.

Based on assessments of ropeginterferon alpha-2b in a real-world setting, researchers highlighted the safety, tolerance, and efficacy of the treatment in Philadelphia-negative myeloproliferative neoplasm (MPNs).

In a review of the polycythemia vera (PV) landscape, researchers outline new perspectives in the diagnosis, prognosis, and treatment of the disease.

Both neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC) share similar types of manifestations; researchers hypothesized that the tool would be useful for NF1 in addition to TSC.

Researchers assess the psychosocial impact of allogeneic hematopoietic stem cell transplantation, particularly how preparing patients can assist in guiding health care providers in offering better care.

As rare disease registries to assess orphan drugs are mainly established by the pharmaceutical industry, researchers argued post-marketing registries, functioning as marketing tools, have an underestimated influence on clinical practice.