Rare Disease

Managing heavily pretreated, often less fit, patients with relapsed/refractory multiple myeloma is a challenge in routine practice, as illustrated by the fact progression-free survival remains short, although daratumumab-based combination therapies are proven effective, according to results presented during a poster session at the 2017 American Society of Clinical Oncology Annual Meeting.

A phase 1 study, presented at the 2017 Annual Meeting of the American Society of Clinical Oncology, found that using daratumumab, an antibody that binds and inhibits the CD38 receptor, can improve patient response to treatment.

Updated trial results at the 2017 Annual Meeting of the American Society of Clinical Oncology showed the combinations of daratumumab with either lenalidomide and dexamethasone or bortezomib and dexamethasone prolonged progression-free survival for patients with relapsed refractory multiple myeloma.

A new study examines the impact that a pharmaceutical’s designation as an orphan drug can have on its manufacturer’s stock prices, and finds that the largest returns were for oncology drugs.

Blinatumomab is now fully approved as a treatment for relapsed or refractory B-cell precursor acute lymphoblastic leukemia (ALL), following FDA assessment of new trial data on survival outcomes and its use in certain clinical subgroups.

Severe hemophilia often results in a significant economic and psychological burden on patients, caregivers, and the healthcare system as a whole, according to recent research from Europe.

An analysis of whole-genome sequencing (WGS) in healthy adults in the primary care setting found that 1 in 5 had a previously unrecognized variant associated with a rare disease, according to a study published in Annals of Internal Medicine.

Novartis’ chimeric antigen receptor T-cell (CAR-T) therapy for treating pediatric leukemia is on the cusp of being the first FDA-approved gene therapy, which will lead to new developments and utilizations of CAR-T therapy for treating other advanced blood cancers.

A study published by BloodAdvances, a Journal of the American Society of Hematology, demonstrated the potential of the 2-pronged approach in treating non-Hodgkin lymphoma, multiple myeloma, and acute myeloid leukemia.

Sarepta Therapeutics has announced a new collaboration with Genethon for gene therapy research in efforts to develop new Duchenne muscular dystrophy (DMD) treatments.

Whipple’s disease (WD) is a rare disease that predominantly affects middle-aged white men, and its diagnosis is often delayed because it is misdiagnosed as rheumatoid arthritis. A new study in Orphanet Journal of Rare Diseases aimed to describe clinical symptoms of WD and appropriate treatment.

Among a group of patients with chronic lymphocytic leukemia (CLL) who were previously unresponsive to rituximab, a new antibody could help enable the immune system to attack the cancer cells, according to a study in PLOS One.

The study, published in Lancet Oncology, has found that nivolumab reduced the rate of clinically meaningful deterioration compared with investigator’s choice among platinum-refractory patients being treated for recurrent or metastatic head and neck cancer.

On Monday, June 26, 2017, the Biden Foundation announced the launch of the Biden Cancer Initiative, their new venture to continue the fight to make progress in cancer prevention, detection, treatment, and care.

Data from multiple studies have demonstrated the efficacy of Venclexta/Venclyxto in treating relapsed or refractory chronic lymphocytic leukemia, according to Roche.

Researchers at Indiana University have confirmed the clinical utility of 2 laboratory tests that can distinguish benign pancreatic cancer lesions that mimic early signs of cancer and spare patients of unnecessary pancreatic cancer screenings or surgeries.

The FDA has approved Genentech’s Rituxan Hycela for subcutaneous injection for the treatment of certain blood cancers. Rituxan Hycela has similar outcomes as Rituxan, but can be delivered in 5 to 7 minutes compared with 1.5 hours for Rituxan.

A phase 3 clinical trial of patients with relapsing multiple sclerosis and primary progressive multiple sclerosis found that Ocrevus (ocrelizumab) significantly reduced disease progression, according to results released by Genentech.

The FDA has approved the use of Janssen Biotech, Inc’s immunotherapy Darzalex in combination with pomalidomide and dexamethasone. Darzalex is used to treat multiple myeloma patients who have previously received at least 2 therapies with lenalidomide and a proteasome inhibitor.

A meta-analysis spearheaded by The International Testicular Cancer Consortium has identified new susceptibility loci in the human genome that can increase a person’s risk of developing inherited testicular germ cell tumors.

A drug previously used in an attempt to treat cancer, now has the potential to be repurposed to treat Duchenne muscular dystrophy.

A phase 1 study, presented at the 2017 American Society of Clinical Oncology Annual Meeting, found that including daratumumab can improve patient response to treatment in newly diagnosed multiple myeloma.

Updated results from the POLLUX and CASTOR trials, presented at the 2017 American Society of Clinical Oncology Annual Meeting, have found that including daratumumab in standard-of-care regimens prolonged progression-free survival (PFS) and improved the depth of response, independent of the patients’ cytogenetic risk.

Healthcare costs for patients with Duchenne muscular dystrophy (DMD) are already far higher than for individuals without the disease, and a new study has found that total healthcare costs are also higher for older patients with DMD.

Patients with cystic fibrosis face a lifetime of time-consuming treatment. There are new breakthrough therapies that not only treat symptoms of the disease, but also the underlying causes, which represents a source of hope for patients. However, barriers to treatment still stand in the way, according to a new white paper from the Cystic Fibrosis Engagement Network.

Congress still has to reauthorize the Prescription Drug User Fee Act, and it can have big consequences for rare disease patients if there is a delay.

Although each individual rare cancer affects a small percentage of patients, the collective group of 181 rare cancers is responsible for significant disease burden in the United States.

The FDA has expanded the approved uses of Kalydeco (ivacaftor), which is used to treat cystic fibrosis, so it can now be used by patients with any of 33 rare gene mutations.

A new paper in Orphanet Journal of Rare Diseases outlines a new pipeline for identifying opportunities to develop therapies for rare diseases that do not have treatments.