Rare Disease

In a reversal of previous policy, the FDA has announced it will allow the genetic testing company 23andMe to market its DNA tests directly to consumers.

A study presented at the annual meeting of the American Association for Cancer Research predicts a shift in the number and the pattern of cancer incidence among those infected with the human immunodeficiency virus (HIV).

Patients with chorea associated with Huntington’s disease have the first new treatment in nearly a decade. The FDA has approved Teva Pharmaceutical Industries Ltd’s Austedo (deutetrabenazine) for the treatment of chorea, which affects nearly 90% of patients with Huntington's.

The first drug to treat primary progressive multiple sclerosis and a new drug approved for atopic dermatitis are the 2017 approvals most exciting to Aimee Tharaldson, PharmD, of Express Scripts.

The Academy of Managed Care Pharmacy Annual Meeting kicked off on March 28, 2017, in Denver, Colorado, with a look at the specialty pharmaceutical pipeline with Aimee Tharaldson, PharmD, senior clinical consultant for emerging therapeutics at Express Scripts.

While the orphan drug market has been growing, a new study argues that the current unmet needs of patients with rare disease proves that current incentives are not efficiently stimulating orphan drug development.

Despite the abundance of new drugs that have been approved recently and the promising clinical trials of other novel therapies, multiple myeloma remains incurable, explained Shaji Kumar, MD, professor of medicine at the Mayo Clinic. However, he believes that with better options for early intervention and personalized therapies, researchers are on a path to curing the disease.

The first treatment for Merkel cell carcinoma, a rare form of skin cancer, has been approved to treat adults and pediatric patients 12 years or older. The drug is also under consideration through Priority Review for treatment of patients with urothelial carcinoma.

The National Organization for Rare Disorders (NORD) has come out strongly against a bill that would provide employers with insight into workers’ personal medical and genetic information.

Difficulty in making pricing and reimbursement decisions for rare diseases has prevented patients from having universal access to new medicines despite increased investment in their research and development. In Europe, a group has proposed 9 principles to guide value assessment, pricing, and funding.

A concerning new study has found a significant gap in survival for cystic fibrosis patients in the United States and Canada. The 10-year advantage observed in Canadian patients could partially be explained by disparities in the countries’ healthcare systems, the researchers suggested.

The selective BCR-ABL1 kinase inhibitor imatinib mesylate (Gleevec) has been found to be safe and effective following almost 11 years of follow-up in patients with chronic myeloid leukemia.

How will drug developers price gene therapy treatments to recover their investment and ensure that society can bear the impending cost?

The orphan drug market continues its steady and inexorable growth even with increased scrutiny on the high prices of these lifesaving treatments.

The company did not recover from the 5 patient deaths associated with JCAR015 in 2016.

The National Organization for Rare Disorders has announced a new, yearlong campaign to raise public awareness of rare diseases. “Do Your Share for Rare” shines a light on people living with a rare disease and provides an opportunity for them to share their story.

The FDA has approved lenalidomide as maintenance therapy in patients with multiple myeloma following autologous stem cell transplant.

Population-level judgements on the value of therapies to treat multiple sclerosis don’t adequately depict the differences between how providers and payers view value compared with patients and how patients view value different from one another.

A new treatment option using stem cell transplants was shown to induce sustained remission of relapsing-remitting multiple sclerosis (MS). More than two-thirds of participants had no signs of progression of disability, relapse of MS symptoms, or new brain lesions after 5 years.

A new study has identified key mutations that can direct the conditioning regimen prior to an allogenic hematopoietic stem cell transplant (SCT) in patients with myelodysplastic syndrome (MDS), leading to a better response.

Children’s National Health System has announced the formation of the Children’s National Rare Disease Institute to advance the care of children and adults with rare genetic diseases.

A treatment for juvenile Batten disease has been tested in a mouse model and the results have shown reduced in symptoms and improved longevity. The results of the study were published in Nature Communications.