Rare Disease

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.

Sanofi and GSK begin human trials for their COVID-19 vaccine; steroids prove effective in severe COVID-19 cases; a drug combination poses a breakthrough in ALS treatment.

The results, indicating that ruxolitinib may be a promising option for children with steroid refractory advanced graft-versus-host disease (aGVHD), would need confirmation from a larger trial.

Researchers discuss the case of a 32-year-old patient who is being treated with ruxolitinib over a period of years to treat steroid refractory graft-versus-host disease.

A recent report illustrates how advances in allogeneic hematopoietic stem cell transplantation (HSCT) have impacted the outcomes of children with severe acute graft-versus-host-disease.

Ruxolitinib plus etanercept showed positive results for the treatment of steroid-refractory severe acute graft-versus-host disease.

Satralizumab is the third drug to be approved by the FDA for neuromyelitis optica spectrum disorder (NMOSD).

An adolescent boy went to his physician with a headache that got worse with physical activity. Testing showed autoimmune myelofibrosis.

A real-world study showed that ruxolitinib is a safe treatment for patients with myelofibrosis.

A new commentary outlines UK guidance about evidence regarding the appropriateness of blood component irradiation for preventing transfusion-associated graft-versus-host disease (TA-GVHD).

The FDA has approved risdiplam, the first at-home, oral treatment for spinal muscular atrophy.

In the primary analysis of a phase 3 study, ruxolitinib reduced spleen length and symptoms in patients with myelofibrosis, according to results published in British Journal of Haemotology.

Previous research has established acute graft-versus-host disease (GVHD) in the gastrointestinal tract as the primary cause of both GVHD severity and mortality, and as a result, emphasis is placed on preventing acute gut GVHD while still preserving the graft-versus-leukemia effect of allogeneic hematopoietic stem cell transplantation.

Patients with myeloproliferative neoplasms (MPNs) have high disease burden, and management of their disease can vary widely to include watchful waiting, phlebotomy, or drug therapy.

A study looking at the ways in which different countries handle appraisal and reimbursement processes for rare disease treatments (RDTs) revealed that implementing supplemental processes can aid in patient and physician decision making.

A phase 3 study of ruxolitinib (Jakafi) has met its primary end point of superior overall response rate (ORR) compared with the best available therapy in patients with moderate or severe steroid-refractory or steroid dependent chronic graft-versus-host disease (GVHD).

Umbilical cord blood provides a readily available source of stem cells to provide better access to hematopoietic stem cell transplantation to safely and effectively treat various noncancerous genetic disorders in children.

Using mindfulness meditation apps may provide an effective way to self-manage and reduce depression and anxiety in patients with myeloproliferative neoplasm (MPNs).

Researchers called for new guidance to address the underreporting of patient engagement in rare disease clinical trials after finding a dismal amount of patient-reported outcome measures listed in orphan drug labeling claims.

A new oral therapy approved by the FDA will provide patients with myelodysplastic syndromes, who typically visit a health care facility for intravenous treatment, with an oral at-home option that can be beneficial during the coronavirus pandemic.

A 52-week interim analysis confirmed previous findings highlighting the benefits of ruxolitinib in patients with polycythemia vera (PV) who are resistant or intolerant to hydroxyurea. The full study findings with a 24-month follow-up are still to come.

Authors hope that identifying knowledge gaps surrounding rare blood cancers, such as essential thrombocythemia and polycythemia vera, will inspire the science community to invest in new comprehensive research on how to properly diagnose and treat patients.