Rare Disease

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.

A gene therapy for patients with recessive dystrophic epidermolysis bullosa (RDEB), a rare skin disease that causes the skin to be very fragile and blister easily, has been granted Breakthrough Therapy designation status by the FDA.

The FDA has approved the first chimeric antigen receptor-T (CAR-T) treatment, tisagenlecleucel (Kymriah), for the treatment of B-cell precursor acute lymphoblastic leukemia in certain pediatric and young adult patients. The therapy represents a new frontier in cancer care.

Chimeric antigen receptor (CAR)-T cells can re-expand in a lymphoma patient months after the initial infusion and can also be active against the patient’s cancer, according to a new study.

The FDA has approved Besponsa (inotuzumab ozogamicin) for treating adults with relapsed or refractory B-cell precursor acute lymphoblastic leukemia.

Patient preferences for multiple sclerosis therapies are important to take into account and are increasingly so as alternatives to traditional injection therapies are developed to address adherence issues.

The Institute for Clinical and Economic Review (ICER) has released a draft version of their scoping document that will compare the clinical effectiveness and value of 2 chimeric antigen receptor (CAR)-T cell treatments being reviewed by the FDA.

MimiVax announced that its immunotherapy vaccine SurVaxM, which is being tested in clinical trials for glioblastoma, has been designated an orphan drug by the FDA.

The results of a phase 2 study that explored the effects of luspatercept in patients with lower-risk myelodysplastic syndromes (MDS) were presented at the 22nd Congress of the European Hematology Association by Acceleron Pharma Inc. The company is developing the drug with Celgene.

Amidst news of Senator John McCain’s glioblastoma diagnosis, a recent discussion between 2 neuro-oncology researchers explored the reasons why this aggressive brain tumor is so difficult to manage, and outlined the ongoing investigations into possible therapies.

Patients with congenital heart defects, such as Marfan syndrome (MFS), are experiencing longer life expectancies due to new advances in medicine-resulting in a greater need for medical rehabilitation.

Vertex Pharmaceuticals recently announced positive data from phase 1 and 2 studies of 3 triple combination regimens in cystic fibrosis patients with one F508del mutation and one minimal function mutation (F508del/Min). These results are the first to present the potential of treating the underlying cause of those with difficult-to-treat cystic fibrosis.

There’s a lot happening in clinical practice with immunotherapy treatments: expanded indications for nivolumab and ipilimumab, biomarkers to judge patient response to combinations, and developments with CAR-T.

This week, the top managed care stories included bipartisan proposals for fixing the Affordable Care Act (ACA); FDA approved a targeted therapy for patients with acute myeloid leukemia who have a rare genetic mutation; and a study found that more patients have gained access to clinical trials after the ACA was implemented.

The Institute for Clinical and Economic Review is seeking public comments on its recently released outline of proposed adaptations involving the assessment of certain treatments for ultra-rare conditions, also known as orphan drugs.

The new immunotherapy of chimeric antigen receptor (CAR)-T cells has demonstrated the ability to increase clinical remission in multiple myeloma patients by targeting the B-cell maturation protein that participates in disease progression.

Enasidenib (Idhifa), developed by Celgene and Agios, has been granted FDA approval in tandem with a companion diagnostic test to detect IDH-2 mutations.

The FDA has expanded the indication of Bristol-Myers Squibb’s Yervoy (ipilimumab) to include the treatment of pediatric patients 12 years of age and older with unresectable or metastatic melanoma.

Venetoclax (Venclexta), in combination with low dose cytarabine, has been granted a breakthrough therapy designation for use in elderly, treatment-naive patients with acute myeloid leukemia (AML) who cannot handle intensive chemotherapy.

Patient-reported outcomes (PROs) can demonstrate the effects of a disease or treatment. By using patient questionnaires, the results can be analyzed to predict clinical outcomes in medical research for diseases, including multiple sclerosis (MS).

Researchers have identified a cellular signaling pathway that when activated by mutations may prevent immune cells from infiltrating bladder tumors, thus making the cancer resistant to immune checkpoint inhibitors.

In a late-breaking abstract at the 2017 American Society of Clinical Oncology Annual Meeting, researchers presented an interim analysis of a randomized phase 2 trial of second- or third-line nivolumab, with or without ipilimumab, in patients with second- or third-line malignant pleural mesothelioma.

Report notes that 74% of drugs that are currently in development are potentially first-in-class medicines, and 822 drugs in development are for rare diseases.