Rare Disease

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).

Patients with polycythemia vera and essential thrombocythemia may be able to reduce their symptoms through a low-cost drug used to treat rheumatoid arthritis (RA), according to a new study in British Journal of Haematology.

The only thing that should matter in these patients is their genetic code, but often it’s your zip code that really restrains your ability to access the healthcare you deserve, explained Ahmar Zaidi, MD, pediatric hematologist-oncologist, Comprehensive Sickle Cell Center, Children's Hospital of Michigan, when discussing the possibility of a gene therapy for sickle cell.

As orphan drugs account for an increasing share of drugs approved, they are driving up the cost of drug launches and drug prices. In a new paper, America's Health Insurance Plans analyzes these rising costs and the use of orphan drugs and asserts that policy makers need to revisit the Orphan Drug Act.

The agency has approved nintedanib (Ofev) to slow the rate of pulmonary function decline in adult patients with interstitial lung disease associated with systemic sclerosis or scleroderma.

Neil Minkoff, MD, chief medical officer and vice president, EmpiraMed, discusses his hopes if the first gene therapy for sickle cell disease is approved and if he has any concerns with payer reactions.

An Expanded Treatment Protocol study that provided expanded access of the FDA-approved ruxolitinib, which treats polycythemia vera (PV) in patients who are intolerant or resistant to hydoxyurea, affirmed the safety and efficacy findings of the trials used for approval.

Ahmar Zaidi, MD, pediatric hematologist-oncologist, Comprehensive Sickle Cell Center, Children's Hospital of Michigan, discusses the need for more efforts from both the medical community and regulators to address the psychosocial complications of sickle cell disease.

Other than surgery and medications, including opioids, there are few options for treating pain symptoms, which affect more than half of all patients with neurofibromatosis type 1.

Regeneron released positive phase 3 results for evinacumab, a drug for a rare form of deadly high cholesterol, and said it expects to seek FDA approval in 2020.

In a highly anticipated decision, the FDA on Monday rejected accelerated approval for Sarepta Therapeutics’ second Duchenne drug, handing the drug maker a surprising blow that has some questioning the motivation behind the decision.