Rare Disease

Therapies for rare diseases, such as gene therapy, pose very unique challenges to value assessments in a variety of different ways, explained Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders.

The FDA approved ruxolitinib (Jakafi) for another indication, this time for the treatment of steroid-refractory acute graft-versus-host disease in adult and pediatric patients 12 years and older.

A study combining ruxolitinib and buparlisib in myelofibrosis showed only a modest benefit compared with ruxolitinib alone, and further studies to see if there is a synergistic effect between the 2 agents will not continue.

Researchers said they discovered a finding that could lead to better treatments for Fanconi anemia (FA), a rare, genetic, pediatric hematologic disorder.

A recent study found that treatment with a systemic JAK1/2 inhibitor was associated with weight gain, the development of obesity, and increased systolic blood pressure.

Voxelotor, a first-in-class oral therapy, is both safe and effective in sickle cell disease, according to a phase 1/2 randomized study assessing the drug. These findings were consistent across all doses, ranging from 500 to 1000 mg.

White patients are significantly more likely to be prescribed buprenorphine compared with patients of other races/ethnicities; Trump has backed a Florida proposal to import drugs from Canada; nearly 25% of medications approved in 2018 cost more than $30,000 per year.

The FDA has approved amifampridine (Ruzurgi), the first treatment for pediatric patients with Lambert-Eaton myasthenic syndrome.

The FDA approved Pfizer’s transthyretin stabilizer tafamidis, the first treatment for cardiomyopathy of wild-type or hereditary transthyretin-mediated amyloidosis (ATTR-CM), a rare, incurable disease. Pfizer will sell the oral drugs under the names Vyndaqel and Vyndamax.

A recent review examined the current evidence regarding risk factors, molecular characterization, and treatment options for myeloproliferative neoplasms.

According to the FDA, there is not enough data to ban sales of textured breast implants that have been associated with a rare cancer.

Sarcoidosis has rarely been reported with polycythemia vera (PV), an acquired myeloproliferative neoplasm characterized by mutant Janus kinase 2 (JAK2) signaling leading to erythrocyte overproduction. In a recent article in the Journal of the American Academy of Dermatology, physicians report on the case of a female patient with PV and sarcoidosis.

Study results demonstrated that in adult patients with blastic plasmacytoid dendritic cell neoplasm, the targeted therapy resulted in high response rates, particularly among treatment-naïve patients.

Splenectomy before allogeneic hematopoietic stem cell transplantation (alloHSCT) might be a promising option in patients with myelofibrosis (MF) who failed to achieve significant spleen response after ruxolitinib therapy, according to results from a recently published study.

Patients with cystic fibrosis who had cytomegalovirus had earlier times to lung transplant referral and reaching final stages of disease.

The Patient Access Network (PAN) Foundation today opened a new patient assistance program for people living with carcinoid syndrome. Carcinoid syndrome occurs when an underlying carcinoid tumor produces excessive amounts of serotonin, often due to liver metastases.

Women who are screened for cervical cancer are significantly less likely to develop rare types of the cancer, especially among women who had 2 tests.

Oncologists and hematologists are welcoming a clarification from the CDC about the use of opioid pain relief for patients with cancer, past cancer, or sickle cell disease, and they are hopeful that payers see the update so that patients in pain are not denied or delayed relief.

"Watch and wait” is typically used first for asymptomatic patients with myelofibrosis, according to a retrospective review of management strategies from the United Kingdom.

The Patient Access Network (PAN) Foundation today opened a new patient assistance program for people living with Waldenstrom macroglobulinemia, a rare type of blood cancer that originates in the lymphatic system and is characterized by an excess of abnormal white blood cells and proteins called immunoglobulins.

Data from a phase 2 study demonstrated that high-grade neuroendocrine carcinoma had a 42% overall response rate to the combination of nivolumab and ipilimumab.

Researchers from South Korea said they have developed a next-generation sequencing (NGS) assay to detect somatic mutations, translocations, and germline mutations in a single assay for the purpose of supplementing or replacing conventional tests in patients with myeloid neoplasms.

Earlier this week, the FDA released a draft guidance document titled, "Rare Diseases: Natural History Studies for Drug Development” with the intention of informing both the design and implementation of natural history studies that can be used to support the development of safe and effective treatments for rare diseases.

A recent study found that patients with myeloproliferative neoplasms living in the United Kingdom, as well as their doctors, felt more burdened by the disease than other patients and providers in other parts of the world.

The findings show that patients with cutaneous T-cell lymphoma who had continuous systemic treatment had average monthly emergency department costs that were $100 lower than those with interrupted treatment.