Rare Disease

Ruxolitinib Likely Safe, Effective in Chronic GVHD

September 21st 2021, 4:48pm

Article

The study of 36 patients showed a response rate of 59% at 3 months, which increased to 62% at 6 months.

JAK Inhibitor Treatment in Myelofibrosis May Depend on Treatment Line, Risk of AEs

September 18th 2021, 6:33pm

Article

The data offer novel insights, as comparable data on the drug class is scarce despite 2 JAK inhibitors being approved for use in myelofibrosis and others showing promise.

Managing Cerebrovascular Complications in Patients With MPN

September 18th 2021, 11:40am

Article

Complications of note in patients with myeloproliferative neoplasm (MPNs) include ischemic stroke, intracerebral and subarachnoid hemorrhage, microbleeds, posterior reversible encephalopathy syndrome, and dural sinus and cerebral vein thrombosis.

Multistakeholder Panel Weighs In on Which Factors to Consider for Reimbursement of Orphan Drugs

September 11th 2021, 9:00pm

Article

From the decision analysis came an agreement that reimbursement for an orphan drug should be based primarily on its effect on health-related quality of life, its effectiveness, and the availability of other treatment options.

Moderna Donates mRNA Therapy for Rare Disease to Nonprofit

September 10th 2021, 10:00pm

Article

Crigler-Najjar Syndrome Type 1 is an ultra-rare disease where treatment relies on a liver transplant or full-day phototherapy sessions.

Family Caregivers of Patients With Gaucher Disease Report Lower Quality-of-Life Scores

September 4th 2021, 3:20pm

Article

Gaucher disease is a rare metabolic condition that causes a fatty substance to build up in the organs and bones. Patients can suffer liver enlargement, anemia, and reduced platelets; they experience fatigue, bone infarctions, and permanent disability or death.

Study Shows Promise of Ruxolitinib in Children With Steroid-Refractory GVHD

September 3rd 2021, 7:27pm

Article

Most studies to date that show efficacy with ruxolitinib in this setting have been in adult patients.

Patients, Caregivers Report Lack of Supportive Services for Inherited Metabolic Diseases

August 25th 2021, 2:45pm

Article

The European-based survey collected information from over 900 patients and caregivers from 25 countries; the responses show a need for both local and national governments to scale up their services for patients with rare metabolic diseases, which also have a positive spillover effects for caregivers.

Using Ruxolitinib to Target JAK1/2 in T-LBL May Prevent Treatment Resistance

August 21st 2021, 5:44pm

Article

For pediatric patients with T-cell origin lymphoblastic leukemia (T-LBL) with disease progression following second-line treatment, investigators found that the JAK1/2 pathway may be a new actionable target through treatment with ruxolitinib.

Case Study Highlights Polycythemia Vera, Pure Erythroid Leukemia Connection

August 18th 2021, 10:30pm

Article

Few cases have documented how myeloproliferative neoplasms, such as polycythemia vera, progress to pure erythroid leukemia, with just 5 such cases reported between 1952 and 1962.