Rare Disease

Thrombotic events are a significant cause of morbidity and mortality for patients with polycythemia vera (PV), and previous reports have shown a significant correlation between elevated white blood cell (WBC) count and thrombotic events. A recently published study among patients treated in the US Veterans Health Administration (VHA) has now substantiated those findings, suggesting that controlling WBC count should be an important facet of managing PV.

Splenomegaly, or enlargement of the spleen, is common in patients with Philadelphia-negative myeloproliferative neoplasms, and it is associated with symptoms like early satiety and abdominal pain. The role that splenomegaly has in terms of quality of life and prognosis in primary myelofibrosis is fairly well understood, but it has been less frequently investigated among patients with essential thrombocythemia (ET) and polycythemia vera (PV).

Symptoms are not random chance—they have a real link to biological drivers of the disease and understanding them is important, said Ruben Mesa, MD, director of UT Health San Antonio MD Anderson Cancer Center.

Novartis hopes to distribute Zolgensma, its pricey spinal muscular atrophy drug, via lottery; Merck receives FDA approval for its Ebola vaccine, Ervebo; a new law in California hopes to resurrect compassionate use cannabis programs.

To avoid the toxicities associated with use of chemotherapy, there has been progress in developing and utilizing chemotherapy-free therapies to treat mantle cell lymphoma, said Michael Wang, MD, professor in the Department of Lymphoma and Myeloma at MD Anderson.

Disease burden is substantial for patients with myelofibrosis, even those with intermediate risk, and a not insubstantial percentage of patients have low or intermediate adherence during treatment, according to 2 abstracts from an Italian clinical trial presented at the 61st American Society of Hematology Annual Meeting & Exposition.

Speaker Nancy Pelosi’s, D-California, drug bill passes in the House; the FDA approves Vyondys 53, from Sarepta Therapeutics, to treat Duchenne muscular dystrophy; San Francisco tackles homelessness, mental illness, and substance abuse.

Hereditary transthyretin amyloid cardiomyopathy, which is caused by a genetic variant significantly associated with heart failure in individuals of African descent, is underdiagnosed, according to a new study published in JAMA.

Patients with mantle cell lymphoma (MCL) face a substantial economic burden and susceptibility to adverse events (AEs) in the real world, according to an abstract presented at the 61st American Society of Hematology Annual Meeting and Exposition.

Historically, patients with severe acute graft-versus-host disease (GVHD) and severe chronic GVHD as determined by the National Institutes of Health have poor survival. New research being presented at the 61st American Society of Hematology Annual Meeting & Exposition shows that earlier treatment with novel therapies can improve outcomes for these patients.

There are no cures available to patients with polycythemia vera (PV), who are first treated with hydroxyurea (HU); ruxolitinib is approved as a second-line therapy in both Europe and the United States for patients who are intolerant of or resistant to HU. Two abstracts being presented at the 61st American Society of Hematology Annual Meeting & Exposition explore the use of ruxolitinib in patients with PV, either in patients who first tried HU or had ruxolitinib as a first-line therapy.

While there is an increased interest in using real-world evidence (RWE) to design, test, and review rare disease treatments, payers may not be as receptive to using RWE when making reimbursement and formulary decisions, according to a new report from Syneos Health.

Ruxolitinib should be added to treatment of patients with graft-versus-host disease (GVHD) are not improving on steroids or whose symptoms return after tapering, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.

Adult patients with beta thalassemia will now have an FDA-approved treatment available with luspatercept-aamt (Reblozyl). The therapy treats the rare inherited blood disorder, which requires patients to have regular red blood cell transfusions.

Prithviraj Bose, MD, of MD Anderson Cancer Center discusses treatment options for patients progressing with myelofibrosis.

A majority of patients with acute graft-versus-host disease (GVHD), but not all, have significant responses to the addition of ruxolitinib, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.

Approximately 4% of the total world population is affected by a rare disease at any given time, according to new research on 3585 rare diseases.

Prithviraj Bose, MD, of MD Anderson Cancer Center discusses the risk of patients being treated with JAK inhibitors developing non-Hodgkin lymphoma.

Here are the top 5 articles for the month of October.

Although eculizumab is only approved by the FDA to treat 3 rare indications, the high and increasing net sales for the drug have raised concerns about off-label use, according to a research letter in JAMA Internal Medicine.

The local community doctor has an important role in recognizing, diagnosing, and managing myelofibrosis, said Naveen Pemmaraju, MD, associate professor in the Department of Leukemia at MD Anderson Cancer Center.

Ruxolitinib was recently approved to treat acute graft-versus-host disease (GVHD), and trials are ongoing to understand the best way to use the treatment with transplantation, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.

The 12 Democratic candidates for president spent a good deal of time at their debate Tuesday night discussing healthcare; a group of state attorneys general tried to convince a US District Court judge to give them more time to create a settlement in their opioid lawsuits but failed; Alexion Pharmaceuticals agreed to buy small biotech Achillion Pharmaceuticals in a deal initially valued at $930 million.

Rare diseases may affect a small number of people, but they have fiscal impacts beyond just healthcare costs. A new study in Orphanet Journal of Rare Diseases used a public economic framework to identify how hereditary transthyretin-mediated amyloidosis has a public economic burden beyond just health costs in the Netherlands.

There are formal criteria to identify progression in myelofibrosis, but patients can progress in many different ways, said Prithviraj Bose, MD, of MD Anderson Cancer Center.

If approved, pemigatinib would be the first targeted therapy for patients with cholangiocarcinoma, a rare cancer that impacts the bile ducts. The disease is often diagnosed at a late or advanced stage.

After the approval of fedratinib, familiarity may keep people using ruxolitinib to treat myelofibrosis or polycythemia vera, but it’s good to know there is a back-up if needed for patients who don’t respond adequately, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.

Health plans restrict orphan drug coverage less often than nonorphan drug coverage. However, the frequency of restrictions varies considerably across plans.

Myelofibrosis has a very heterogeneous disease presentation, which means patients with it can present to the clinic with a number of different symptoms, explained Naveen Pemmaraju, MD, associate professor in the Department of Leukemia at MD Anderson Cancer Center.

The development and access to orphan indications rely on reimbursement models that require regulatory action toward out-of-pocket costs for patients, said Scott Gottlieb, MD, former FDA commissioner (2017-2019).