Rare Disease

Biotechnology company Avrobio has completed a $60 million Series B financing to advance multiple gene therapies, including AVR-RD-01, a proposed single-dose lentiviral gene therapy for Fabry disease (FD).

Only 5% of rare diseases have treatments, but approximately half have patient advocacy organizations; these groups have the potential to play major roles in positively influencing research and development of drugs, clinical trials, and regulations by championing funding and awareness efforts, forming connections between experts and drug developers, advocating for changes to regulation to expedite research, facilitating patient registries, or other initiatives.

The FDA approved the first radioactive drug, or radiopharmaceutical, to treat a rare type of cancer that affects the pancreas or gastrointestinal tract called gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Lutathera (lutetium Lu 177 dotatate) is cleared for adult patients with somatostatin receptor-positive GEP-NETs.

Researchers were especially concerned about barriers for patients with familial hypercholesterolemia, whose needs would seem clear cut but who nonetheless faced costly hurdles, such as genetic testing.

Benitec Biopharma, an Australia-based drug developer, has received the FDA’s Orphan Drug designation for BB-301, an investigational drug for the treatment of oculopharyngeal muscular dystrophy.

Why healthy adults should still get the flu vaccine; President Donald Trump undergoes first medical checkup of his presidency; review of Luxturna finds the $850,000 gene therapy needs a price discount.

Recently, the FDA granted a breakthrough therapy designation to eltrombopag (Promacta, Novartis) for combination use with standard immunosuppressive therapy as a first-line treatment for patients with severe aplastic anemia (SAA).

The approval will expand the currently approved indication for the prevention of skeletal-related events in patients with bone metastases from solid tumors to also include patients with multiple myeloma.

Several studies have suggested that inflammation plays a role in Huntington disease (HD), and a recent review, published in Neural Regeneration Research, explored the anti-inflammatory and immunomodulatory agents that have been investigated as possible treatments for HD.

New vision loss gene therapy gets a price tag below the expected $1 million mark; new evidence finds that the prevalence of autism spectrum disorders has plateaued; hospitals are ill-equipped to care for dementia patients, but a new effort could change that.

While FoundationOne CDx, the comprehensive companion diagnostic test for solid tumors, gives patients the ability to be accurately matched with a targeted therapy, it also has potential benefits for patients with a less common types of cancers, said Stuart Goldberg, MD, chief scientific officer, Cota, in an interview with The American Journal of Managed Care®.

The FDA approved Spark Therapeutics Inc.’s voretigene neparvovec-rzyl (Luxturna), the first gene therapy for inherited vision loss caused by faulty gene mutations.

In a session at the 59th American Society of Hematology Annual Meeting and Exposition in Atlanta, Georgia, Brian Curtis, PhD, of the BloodCenter of Wisconsin Blood Research Institute, highlighted drugs other than chemotherapy that may cause neutropenia in patients.

Including the modified brentuximab antibody in the treatment regimen improved modified progression-free survival by 5%, although the rates of neutropenia and infections were higher in patients administered the brentuximab-containing regimen.

Is transfusion dependence a barrier to hospice utilization among older patients with leukemia who are enrolled in Medicare?

Infantile spasms are hard to diagnose, which can lead to treatment delays, according to the study authors.

Mantle cell lymphoma is an aggressive type of non-Hodgkin lymphoma. Acalabrutinib (Calquence) is a kinase inhibitor that works by blocking an enzyme the cancer needs to multiply and spread.

Although there is no scientific evidence that a specific diet reduces risk of infection in patients experiencing neutropenia, it is a common strategy in cancer care. Research presented at the 42nd Annual Congress of the Oncology Nursing Society determined that the popular neutropenic diet can be eliminated from practice.

Before treating certain patients, Daniel J. DeAngelo, MD, JD, of Harvard Medical School and the Dana-Farber Cancer Institute, will council them on the risk of developing neutropenia, which can result in hospitalization or even an intensive care stay.

After examining over 1000 cases of high-grade gliomas in children and young adults, researchers have split these rare brain tumors into at least 10 different subtypes, which could help clinicians choose and deliver more effective treatments.

FDA Commissioner Scott Gottlieb, MD, announced the agency’s progress in streamlining the orphan drug review process and outlined plans to close a loophole currently hindering pediatric drug research.

Bristol-Myers Squibb announced that the FDA has placed a clinical hold on 3 combination trials evaluating its programmed death-1 inhibitor nivolumab (Opdivo) in patients with relapsed/refractory multiple myeloma.

The assumption in the United States is that once someone with cancer is cured, done with treatment, and healthy, that they are now okay. However, the reality is that survivors contend with lingering challenges that aren’t visible and make it difficult for them to ask for help or admit they need it.

A look at some of the major developments in the chimeric antigen receptor T (CAR-T) cell space.